MECP2

list of mutations

graph of mutations

Rare variants
CDKL5

list of mutations

graph of mutations

Rare variants
FOXG1

list of mutations

graph of mutations

Rare variants
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Mutated Gene:
MECP2:     CDKL5:     FOXG1:     Unknown:
   Survival
   Mutation Type
   Nucleotide Change
   AA Change
   Phenotype Category
       
    -    Login    -    RECORD FOUND: 431
Code Internal Code Phenotype Category Clinical Score Mutated Gene Mutation Type Nucleotide Change AA Change Additional Info Biological Sample Available Reference
11, Proband
2, father
3, mother  
 classic Rett  20  MECP2  late truncating  1159-1199del  P387fs    Leucocytes in DMSO medium
 1 B  
DNA
 1    2    3  
De Bona et al, 2000
24,
5, mother
6, Father  
 classic Rett  -  MECP2  early truncating  808C>T  R270X    Lymphoblastoid Cell Line
 4 B    4  
DNA
 4    5    6  
De Bona et al., 2000
38, proband
7, Mother  
 classic Rett  30  MECP2  early truncating  763C>T  R255X    DNA
 8    7  
De Bona et al. 2000
410, proband
9, mother
11, Unaffected sister
12, Unaffected sister
13, Father  
 classic Rett  -  MECP2  missense  398G>T  R133L    Lymphoblastoid Cell Line
 10  
DNA
 10    9    11    12    13  
De Bona et al, 2000
516, proband
14, mother
15, Father
23, Unaffected brother  
 classic Rett  -  MECP2  early truncating  806-807delG  G269fsX288    DNA
 16    14    15    23  
De Bona et al, 2000
617, proband
18, Mother
19, Father  
 classic Rett  -  MECP2  missense  917G>A  R306H    DNA
 17    18    19  

720, proband
22, Mother
21, Father
33, Brother  
 classic Rett  -  MECP2  early truncating  423C>G  Y141X    DNA
 20    22    21    33  

826, proband
25, Father
24, Mother
27, Sister  
 classic Rett  -  MECP2  early truncating  763C>T  R255X    DNA
 26    25    24    27  

928, proband
30, Mother
29, Father
31, Sister  
 classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 28    30    29    31  

1032, proband
35, Mother
34, Father  
 PSV  15  MECP2  late truncating  1159_1202del  L386Xfs    DNA
 32    35    34  
Zappella et al, 2001
Zappella et al, 1998
11172, proband
173, mother  
 PSV  19  MECP2  missense  397C>T  R133C    DNA
 172    173  

1239, Proband
37, Mother
36, Father  
 classic Rett  33  MECP2  early truncating  808C>T  R270X    Leucocytes in DMSO medium
 39  
DNA
 39    37    36  

1340, proband
41, Mother
42, Father  
 classic Rett  -  MECP2  early truncating  431delA  K144fs    DNA
 40    41    42  

14178, proband
177, mother
179, father  
 PSV  19  MECP2  missense  473C>T  T158M    DNA
 178    177    179  
Zappella et al, 2001
1543, Proband
44, Father
45, Mother  
 classic Rett  20  MECP2  late truncating  1152_1193del  P385Xfs    Leucocytes in DMSO medium
 43 B  
Lymphoblastoid Cell Line
 43  
DNA
 44    45    43    43B  

16185, proband
186, mother
187, father  
 classic Rett  -  MECP2  missense  916C>T  R306C    DNA
 185    186    187  

1746, proband
47, Father
48, Mother  
 classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 46    47    48  

1851,    classic Rett  30  MECP2  early truncating  808C>T  R270X    Lymphoblastoid Cell Line
 51    51  
DNA
 51  

1952, proband
53, Mother
54, Father
55, brother  
 classic Rett  23  MECP2  early truncating  880C>T  R294X    DNA
 52    53    54    55  

20188, proband
189, mother  
 classic Rett  -  MECP2  missense  473C>T  T158M    DNA
 188    189  

21203, proband
204, father
197, mother
521, sister
487, maternal grandmother
486, paternal grandmother  
 forme fruste  22  MECP2  missense  397C>T  R133C    Lymphoblastoid Cell Line
 203    204    197  
DNA
 203    204    197    521    487    486  

2257, proband
58, Father
59, Brother
60, Mother  
 classic Rett  -  MECP2  missense  674C>G  P225R    DNA
 57    58    59    60  

2361, proband
62, Mother
63, Father
68, Brother
69, Brother  
 classic Rett  20  MECP2  early truncating  880C>T  R294X    DNA
 61    62    63    68    69  

2464, proband
65, sister
66, Mother
67, Father  
 PSV  20  MECP2  missense  472A>G  T158A    DNA
 64    65    66    67  
Zappella et al, 2001
2570, proband
78, Mother  
 classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 70    78  

2672, proband
75, mother
76, Father
77, Brother  
 classic Rett  -  MECP2  early truncating  880C>T  R294X    DNA
 72    75    76    77  

27212, mother
213, father
211, proband  
 forme fruste  13  MECP2  early truncating  808C>T  R270X    DNA
 212    213    211  

2871, proband
73, Father
74, Mother  
 classic Rett  22  MECP2  early truncating  880C>T  R294X    DNA
 71    73    74  

29216, proband
215, mother
214, father  
 classic Rett  -  MECP2  missense  916C>T  R306C    DNA
 216    215    214  

3085, proband
429, Father
250, Mother  
 classic Rett  30  MECP2  late truncating  1116del86  H371fs    DNA
 85    429    250  

3187, proband
88, Mother  
 classic Rett  24  MECP2  early truncating  763C>T  R255X    DNA
 87    88  

32223, proband
224, mother
225, father  
 forme fruste  16  MECP2  missense  455C>G  P152R    DNA
 223    224    225  

33191, proband
190, mother  
 classic Rett  36  MECP2  gene deletion        DNA
 191    190  

34402, proband
400, Mother
401, Father  
 classic Rett  -  MECP2  missense  397C>T  R133C    DNA
 402    400    401  

35234,
233, father
232, mother  
 classic Rett  27  MECP2  early truncating  763C>T  R255X    Lymphoblastoid Cell Line
 234 B    234 B  
DNA
 234    233    232  

36414, proband
424, Father
425, Mother  
 classic Rett  -  MECP2  early truncating  387del2  G129fs    DNA
 414    424    425  

37417, proband
418, Father
419, Mother  
 classic Rett  27  MECP2  missense  473C>T  T158M    DNA
 417    418    419  

38243, proband
242, father
241, mother  
 classic Rett  -  MECP2  late truncating  1148del47  L383fs    DNA
 243    242    241  

39421, proband
422, mother
423, father  
 classic Rett  -  MECP2  late truncating  1161del6_1180del26  P387fs    DNA
 421    422    423  

40386, proband
432, mother
434, father  
 high functioning PSV  6  MECP2  late truncating  1357C>T  R453X    DNA
 386    432    432    434  
Zappella et al, 2003
41244, proband
245, mother
246, father
522, abortive material  
 classic Rett  27  MECP2  missense  473C>T  T158M    DNA
 244    245    246    522  

42435, proband
436, mother  
 classic Rett  -  MECP2  early truncating  763C>T  R255X    DNA
 435    436  

43624, proband
625, mother
626, father  
 classic Rett  35  MECP2  early truncating  502C>T  R168X    DNA
 624    625    626  

44465, proband
503, father
504, mother  
 classic Rett  26  MECP2  missense  802C>T  R268W    Lymphoblastoid Cell Line
 465  
DNA
 465    503    504  

45476, proband
474, father
475, mother
602, amniocites (unaffected sister)  
 classic Rett  -  MECP2  missense  916C>T  R306C    DNA
 476    474    475    602  

46262,
257, father
258, mother  
 classic Rett  -  MECP2  early truncating  808C>T  R270X    Leucocytes in DMSO medium
 262  
Lymphoblastoid Cell Line
 262 b    262b  
DNA
 262    257    258  

47637, proband
635, father
636, mother  
 classic Rett  21  MECP2  early truncating  502C>T  R168X    Lymphoblastoid Cell Line
 637  
DNA
 637    635    636  

48477, proband
478, mother
479, father  
 classic Rett  -  MECP2  missense  916C>T  R306C    DNA
 477    478    479  

49642,
643, mother
644, father  
 classic Rett  35  MECP2  missense  455C>G  P152R    Leucocytes in DMSO medium
 642  
Lymphoblastoid Cell Line
 642 B    642 B  
DNA
 642    643    644  

50645,
646, mother  
 classic Rett  31  MECP2  early truncating  763C>T  R255X    Leucocytes in DMSO medium
 645  
DNA
 645    646  

51656, proband
657, father
658, mother  
 classic Rett  26  MECP2  early truncating  808C>T  R270X    DNA
 656    657    658  

52672, proband
673, father
674, mother  
 PSV  -  MECP2  missense  916C>T  R306C    Leucocytes in DMSO medium
 672 B    673 B    674 B  
DNA
 672    673    674  

53101, proband    classic Rett  32  MECP2  early truncating  763C>T  R255X    DNA
 101  

54106, proband
105, mother  
 classic Rett  27  MECP2  late truncating  1163del6  P388fs    DNA
 106    105  

55109, proband
110, father
111, mother  
 PSV  7  MECP2  late truncating  1159del44  P387fs    DNA
 109    110    111  
Zappella et al, 2001
Zappella et al, 1998
56112, father
113, mother
115, proband  
 classic Rett  -  MECP2  late truncating  1165del69ins21  P389_P411del23ins7    Leucocytes in DMSO medium
 112    113  
Lymphoblastoid Cell Line
 115  
DNA
 115    112    113  

57280, proband
281, mother
282, father  
 classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 280    281    282  

58117, proband
116, father
118, mother  
 classic Rett  27  MECP2  early truncating  808C>T  R270X    DNA
 117    116    118  

59284,
291, mother
292, father  
 classic Rett  20  MECP2  late truncating  1163del35  P388fs    Leucocytes in DMSO medium
 284  
DNA
 284    291    292  

60119, proband
121, father
120, mother  
 PSV  8  MECP2  missense  916C>T  R306C    DNA
 119    121    120  
Zappella et al, 2001
61122, mother
124, Proband
125, father  
 classic Rett  -  MECP2  early truncating  42ins8  E14fs    Leucocytes in DMSO medium
 122  
Lymphoblastoid Cell Line
 124  
DNA
 124    122    125  

62293, proband
294, mother
295, father  
 classic Rett  -  MECP2  early truncating  763C>T  R255X    DNA
 293    294    295  

63138, proband
139, affected sister (PSV)
137, mother (carrier)
666, sister  
 classic Rett  27  MECP2  late truncating  1157del32  L386fs    Leucocytes in DMSO medium
 138    139  
Lymphoblastoid Cell Line
 138    139    137  
DNA
 138    139    137    666  
Zappella et al, 2001
64143, Proand
142, mother  
 classic Rett  30  MECP2  early truncating  808C>T  R270X    Fibroblast
 143  
DNA
 143    142  

65144, proband
145, father
146, mother  
 classic Rett  29  MECP2  missense  917G>A  R306H    DNA
 144    145    146  

66149, proband
147, mother
148, father  
 classic Rett  30  MECP2  early truncating  750_751insC  P251fs    DNA
 149    147    148  

67169, proband
167, father
168, mother  
 PSV  5  MECP2  late truncating  1157del41  L386fs    DNA
 169    167    168  
Zappella et al, 2001
68698, proband
699, mother
697, father  
 classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 698    699    697  

691198, Proband
1199, father
1200, mother  
 forme fruste  13  MECP2  missense  397C>T  R133C    Lymphoblastoid Cell Line
 1198    1198    1198  
DNA
 1198    1199    1200  

70709, proband
706, father
707, mother
855, affected fetus (proband sister)  
 classic Rett  35  MECP2  early truncating  567insA  R190fs    Leucocytes in DMSO medium
 709  
Lymphoblastoid Cell Line
 709  
DNA
 709    706    707    855    855C  
Mari et al, 2005
71710, proband
708, father
711, mother  
 classic Rett  -  MECP2  early truncating  747_748insCGCCC  P251fs    DNA
 710    708    711  

72717, proband
715, father
716, mother  
 classic Rett  29  MECP2  missense  455C>G  P152R    Leucocytes in DMSO medium
 717    715    716  
DNA
 717    715    716  

73719, father
720, mother
718, proband  
 classic Rett  20  MECP2  missense  331A>G  R111G    Leucocytes in DMSO medium
 719    720    718  
Lymphoblastoid Cell Line
 718  
DNA
 718    719    720  

74304, Proband
305, Father
306, mother  
 classic Rett  27  MECP2  missense  473C>T  T158M    Lymphoblastoid Cell Line
 304  
DNA
 304    305    306  

75730, mother
729, Proband  
 classic Rett  -  MECP2  early truncating  880C>T  R294X    Leucocytes in DMSO medium
 730    729  
Fibroblast
 729  
DNA
 729    730  

76315, Proband
316, father
317, mother  
 classic Rett  27  MECP2  missense  473C>T  T158M    DNA
 315    316    317  

77739, father
740, mother
738, proband  
 classic Rett  26  MECP2  early truncating  889C>T  Q297X    Leucocytes in DMSO medium
 739    740  
Lymphoblastoid Cell Line
 738  
DNA
 738    739    740  

781195,
1194, father
1196, mother  
 Rett-like  -  MECP2  missense  316C>T  R106V    Lymphoblastoid Cell Line
 1195    1195  
DNA
 1195    1194    1196  

79333, proband
335, mother  
 classic Rett  27  MECP2  early truncating  108del4  K36fs    DNA
 333    335  

80749, mother
748, father
747, proband  
 classic Rett  24  MECP2  missense  916C>T  R306C    Leucocytes in DMSO medium
 749    748  
Lymphoblastoid Cell Line
 747  
DNA
 747    748    749  

81528, proband
526, father
527, mother  
 classic Rett  31  MECP2  early truncating  880C>T  R294X    DNA
 528    526    527  

82759, proband
755, father
754, mother  
 classic Rett  36  MECP2  early truncating  763C>T  R255X    Leucocytes in DMSO medium
 759    755  
Lymphoblastoid Cell Line
 754  
DNA
 759    754    755  

83342,
341, mother  
 classic Rett  29  MECP2  early truncating  808C>T  R270X    Lymphoblastoid Cell Line
 342    342  
DNA
 342    341  

84533, proband
534, mother
535, father  
 classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 533    534    535  

85343, proband
344, mother
345, father  
 classic Rett  -  MECP2  late truncating  1163del35  P388fs    DNA
 343    344    345  

86554, mother (carrier)
556, proband
555, father  
 classic Rett  -  MECP2  missense  916C>T  R306C    Leucocytes in DMSO medium
 554  
Lymphoblastoid Cell Line
 554    556  
DNA
 556    554    555  

87765, affected monozygotic twin sister
766, father
767, mother
764, proband  
 classic Rett  29  MECP2  missense  473C>T  T158M    Leucocytes in DMSO medium
 765    766    767  
DNA
 764    765    766    767  

88362, Proband
363, Father
364, mother  
 high functioning PSV  4  MECP2  missense  397C>T  R133C    DNA
 362    363    364  
Zappella et al, 2003
89296, Proband
297, mother
298, father  
 classic Rett  22  MECP2  early truncating  808C>T  R270X    DNA
 296    297    298  

90768, proband
769, father
770, mother  
 classic Rett  21  MECP2  missense  473C>T  T158M    Leucocytes in DMSO medium
 768    769    770  
DNA
 769    770  

91771, proband
772, mother
773, father  
 classic Rett  27  MECP2  missense  397C>T  R133C    DNA
 771    772    773  

92369, Proband
633, Father  
 classic Rett  34  MECP2  early truncating  502C>T  R168X    Lymphoblastoid Cell Line
 369  
DNA
 369    633  

93776, father
777, proband
778, mother
793, unaffected fetus (proband sibling)
794, unaffected fetus (proband sibling)  
 classic Rett  -  MECP2  early truncating  880C>T  R294X    Leucocytes in DMSO medium
 776  
DNA
 777    776    778    793    794  

94781, father
782, mother
780, proband  
 classic Rett  -  MECP2  early truncating  763C>T  R255X    Leucocytes in DMSO medium
 781  
Lymphoblastoid Cell Line
 782  
DNA
 780    781    782  

95384, Proband
383, Father
382, Mother  
 classic Rett  29  MECP2  missense  473C>T  T158M    DNA
 384    383    382  

96307,
308, Mother
309, Father  
 PSV  10  MECP2  missense  397C>T  R133C    Leucocytes in DMSO medium
 307  
DNA
 307    308    309  
Ref.
Ref.
97360, Proband
361, Mother
366, Father  
 forme fruste  19  MECP2  late truncating  1163del17  P388fs    DNA
 360    361    366  

98550, proband
551, mother
552, father  
 classic Rett  -  MECP2  late truncating  1157_1188del32  L386fs    Lymphoblastoid Cell Line
 550  
DNA
 550    551    552  

99559, proband
557, mother
558, father  
 classic Rett  -  MECP2  early truncating  808C>T  R270X    DNA
 559    557    558  

100565, proband
567, mother  
 classic Rett  -  MECP2  late truncating  1163_1188del26  P388fs    Lymphoblastoid Cell Line
 565  
DNA
 565    567  

101481, proband    ND (age less than 4 years)  -  MECP2  missense  473C>T  T158M    DNA
 481  

102412, proband
413, mother  
 classic Rett  -  MECP2  missense  473C>T  T158M    DNA
 412    413  

103505, proband
506, Father
507, mother  
 early seizures variant  28  CDKL5  early truncating  838_847delTTGGACCCAG  T281fsX284    DNA
 505    506    507  
Mari et al, 2005
104571,
572, Pather
573, Mother  
 classic Rett  25  MECP2  early truncating  502C>T  R168X    Lymphoblastoid Cell Line
 571    571  
DNA
 571    572    573  

105574,
575, Mother
576, Father  
 classic Rett  -  MECP2  early truncating  808C>T  R270X    Lymphoblastoid Cell Line
 574    574  
DNA
 574    575    576  

106581, Proband
582, Father
583, Mother  
 classic Rett  27  MECP2  gene deletion        Leucocytes in DMSO medium
 581B    582    583  
Plasma
 581    582    583  
DNA
 582    583  
Ariani et al, 2004
107585, Proband
586, Father
587, Mother  
 PSV  20  MECP2  missense  316C>T  R106W    Lymphoblastoid Cell Line
 585  
DNA
 586    587  

108588, Proband
589, Father
590, Mother  
 PSV  8  MECP2  missense  397C>T  R133C    DNA
 588    589    590  

109592,    classic Rett  -  MECP2  early truncating  763C>T  R255X    Lymphoblastoid Cell Line
 592    592  
DNA
 592  

110601, Proband
939, Father  
 PSV  10  MECP2  late truncating  1163-1207del44  P388fs    Leucocytes in DMSO medium
 601  
DNA
 601    939  

111603, Proband
604, Father
605, Mother
974, DNA from amniocytes (unaffected sister of the prob  
 PSV  -  MECP2  missense  455C>G  P152R    Lymphoblastoid Cell Line
 603  
DNA
 603    604    605    974  

112608, Proband
606, Father
607, Mother  
 classic Rett  30  MECP2  missense  916C>T  R306C    Lymphoblastoid Cell Line
 608  
DNA
 608    606    607  

113368, Proband
446, mother
447, Father  
 PSV  22  MECP2  missense  397C>T  R133C    DNA
 368    446    447  
Zappella et al, 2001
114357, proband
463, father
464, mother  
 classic Rett  -  MECP2  early truncating  808C>T  R270X    DNA
 357    463    464  

115612, Proband
846, Father
847, Mother
1072, Proband cousin  
 PSV  -  Unknown          Leucocytes in DMSO medium
 612    612C    846    847    1072  
DNA
 612    612B    612C    846    847    1072  

116318, proband    classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 318  

117338, Proband
340, Father
339, Mother  
 PSV  20  MECP2  late truncating  1156del33  L386fs    DNA
 338    340    339  
Zappella et al, 2001
Zappella et al, 1998
118616, Proband
614, Mother
615, Chorionic villus(unaffected sibling)  
 classic Rett  -  MECP2  missense  473C>T  T158M    Leucocytes in DMSO medium
 616B  
DNA
 616    614    614B    615  

119850, father
851, mother
849, proband  
 early seizures variant  27  CDKL5  early truncating  163_166delGAAA  R55fsX74    Leucocytes in DMSO medium
 850    851  
Lymphoblastoid Cell Line
 849 C  
DNA
 849    849 B    849 C    850    851  
Scala et al, 2005
120950, proband
949, father
1051, mother  
 early seizures variant  22  CDKL5  late truncating  2343delG  S781fsX783    Lymphoblastoid Cell Line
 950 B  
DNA
 950    950 B    949    1051  
Mari et al, 2005
121975, Healthy sister
902, proband
903, father
904, mother  
 early seizures variant  29  CDKL5  late truncating  2635_2636delCT  E879fsX908    Lymphoblastoid Cell Line
 975    902 C  
DNA
 902    902 C    903    904  
Scala et al, 2005
122806, father
807, mother
805, proband  
 classic Rett  20  MECP2  early truncating  119_120delAG  E40fs    Leucocytes in DMSO medium
 806    807    805  
DNA
 805    806    807  

123832, proband
833, mother
834, father  
 PSV  11  MECP2  missense  397C>T  R133C    Leucocytes in DMSO medium
 832    833    834  
DNA
 832    833    834  

124840, proband
841, father
842, mother  
 classic Rett  29  MECP2  missense  403A>G  K135E    Leucocytes in DMSO medium
 840    841    842  
DNA
 841    842    840  

125879, proband
2405, Father
1406, Mother  
 classic Rett  23  MECP2  late truncating  1164_1177del14  P388fs    DNA
 879    2405    1406  

126880, proband
881, father
882, mother  
 ND (age less than 4 years)  21  MECP2  late truncating  1072_1186del114  A358fs    DNA
 880    881    882  

127893,
1133, mother
1134, father  
 classic Rett  -  MECP2  early truncating  763C>T  R255X    Lymphoblastoid Cell Line
 893 B    893 B  
DNA
 1133    1134    893  

128909, proband
910, father
911, mother  
 Rett-like  19  MECP2  early truncating  695delG  G232fs    Leucocytes in DMSO medium
 909    910    911  
DNA
 909    910    911  

129914, proband
915, father
916, mother  
 ND (age less than 4 years)  -  MECP2  missense  473C>T  T158M    Leucocytes in DMSO medium
 914    915    916  
DNA
 914    915  

130917, proband
918, father
919, mother  
 classic Rett  25  MECP2  early truncating  808C>T  R270X    Leucocytes in DMSO medium
 917    918    919  
Lymphoblastoid Cell Line
 917  
DNA
 917    918    919  

131983, mother
984, father
982, proband  
 classic Rett  -  MECP2  missense  397C>T  R133C    Leucocytes in DMSO medium
 983    984  
DNA
 982    983    984  

132992, proband    classic Rett  -  MECP2  early truncating  880C>T  R294X    Leucocytes in DMSO medium
 992  
DNA
 992  

133996, proband
997, mother
998, father  
 classic Rett  -  MECP2  late truncating  1164_1207del44  P388fs    Leucocytes in DMSO medium
 996  
DNA
 996    997    998  
bone marrow mesenchimal stem cells
 996  

1341018, proband
1019, father
1020, Healthy brother
1021, mother  
 Rett-like  -  MECP2  late truncating  979_1216del239ins24  T327fs    DNA
 1018    1019    1020    1021  

135954, Proband
956, Unaffected sister
957, Mother  
 classic Rett  20  MECP2  early truncating  763C>T  R255X    Leucocytes in DMSO medium
 954  
DNA
 954    956    957  

136958, Proband
959, Father
960, Mother  
 classic Rett  31  MECP2  missense  316C>T  R106W    Leucocytes in DMSO medium
 958  
DNA
 958    959    960  

1371066, Proband
1067, Father
1068, Mother  
 classic Rett  -  MECP2  missense  916C>T  R306C    Leucocytes in DMSO medium
 1066    1067    1068  
DNA
 1066    1067    1068  

138380, proband
378, mother
379, father  
 classic Rett  29  MECP2  gene deletion        Leucocytes in DMSO medium
 380    378    379  
Lymphoblastoid Cell Line
 380  
DNA
 380    378    379  

139937, proband
938, mother
940, father  
 Rett-like  -  Unknown          DNA
 937    938    940  

140107, proband
108, mother  
 forme fruste  -  Unknown          DNA
 107    108  

1411035, proband
1036, father
1037, mother  
 Rett-like  -  Unknown          DNA
 1035    1036    1037  

142231, proband
228, father
229, mother  
 Rett-like  -  Unknown          DNA
 231    228    229  

143134, proband
135, father
136, mother  
 Rett-like  -  Unknown          Leucocytes in DMSO medium
 134 B  
DNA
 134    134 B    135    136  

144493, proband    PSV  -  Unknown          DNA
 493  

145207,
208, mother
209, father
485, maternal grand mother
488, paternal grand father  
 early seizures variant  -  Unknown          Leucocytes in DMSO medium
 207 C  
DNA
 207    208    209    485    488  

146156, proband
155, mother
157, father  
 congenital  39  FOXG1  early truncating  765G>A  W255X    Leucocytes in DMSO medium
 156 B    155 B    157 B  
Lymphoblastoid Cell Line
 156d  
Fibroblast
 156  
DNA
 156    155    155 B    157    157 B  
Ariani F. et al., Am J Hum Genet, 2008
1471043, proband
1044, father
1045, mother  
 early seizures variant  -  Unknown          DNA
 1043    1044    1045  

1481057, Proband
1058, mother
1059, father  
 early seizures variant  -  Unknown          Leucocytes in DMSO medium
 1057 C  
DNA
 1057    1058    1059  

149744, proband
745, mother
746, father  
 classic Rett  -  Unknown          Leucocytes in DMSO medium
 744  
DNA
 744    745    746  

150103, mother
104, father
102, proband  
 Rett-like  -  Unknown          Leucocytes in DMSO medium
 103 B    104 B  
Lymphoblastoid Cell Line
 102 B  
DNA
 102    103    104  

151825, proband
826, father
827, mother  
 classic Rett  -  Unknown          Leucocytes in DMSO medium
 825    826    827  
DNA
 825    826    827  

152127, proband
126, mother  
 PSV  -  Unknown          DNA
 127    126  

153727, proband
726, mother
728, father  
 classic Rett  29  MECP2  gene deletion        Leucocytes in DMSO medium
 727  
DNA
 727    726    728  

154921, proband    PSV  -  Unknown          Leucocytes in DMSO medium
 921  
DNA
 921  

15596, proband
93, father
95, mother  
 classic Rett  -  MECP2  gene deletion        Leucocytes in DMSO medium
 96  
DNA
 96    96 B    93    95  

157152, proband
153, mother
154, father  
 PSV  -  Unknown          DNA
 152    153    154  

15849, proband
50, mother  
 classic Rett  -  Unknown          DNA
 49    50  

15991, proband
89, mother
90, father  
 classic Rett  -  MECP2  gene deletion        DNA
 91    89    90  

160267,
269, proband
268, father  
 PSV  -  Unknown          Lymphoblastoid Cell Line
 267    267  
DNA
 269    267    268  

161808, father
809, mother
810, proband  
 Rett-like  -  Unknown          Leucocytes in DMSO medium
 808    809  
DNA
 810    808    809  

162270, proband
274, mother
278, father  
 PSV  -  Unknown          DNA
 270    274    278  

163288, proband
289, father
290, mother  
 PSV  -  Unknown          DNA
 288    289    290  

164247, father
248, mother
249, proband  
 classic Rett  -  Unknown          Leucocytes in DMSO medium
 247    248  
DNA
 249    247    248  

165302, mother
299, proband
301, father  
 PSV  -  Unknown          DNA
 302    299    301  

166300, proband
303, mother
319, father
320, paternal aunt
321, paternal aunt
322, paternal aunt
323, sister
324, brother  
 PSV  -  Unknown          DNA
 300    303    319    320    321    322    323    324  

167129,
128, father
130, mother  
 PSV  -  Unknown          Leucocytes in DMSO medium
 129  
DNA
 129    128    130  

168458, proband
459, father
460, mother  
 PSV  -  Unknown          DNA
 458    459    460  

169313, proband
314, mother
325, father  
 PSV  -  Unknown          DNA
 313    314    325  

170443, proband
444, father
445, mother  
 PSV  -  Unknown          DNA
 443    444    445  

171471, proband
472, father
473, mother  
 PSV  -  Unknown          Lymphoblastoid Cell Line
 471  
DNA
 471    472    473  

172230, proband
226, mother
227, father  
 Rett-like  -  Unknown          DNA
 230    226    227  

173150, Proband
151, mother  
 PSV  -  Unknown          Lymphoblastoid Cell Line
 150 b  
DNA
 150    151  

174406, proband
630, Father
629, mother  
 classic Rett  -  Unknown          Lymphoblastoid Cell Line
 406  
DNA
 406    630    629  

175562, proband
667, father
668, mother  
 Rett-like  -  Unknown          DNA
 562    667    668  

176489, proband
912, father
913, mother  
 Rett-like  -  Unknown          DNA
 489    912    913  

177723, proband
721, father
722, mother  
 Rett-like  -  Unknown          Lymphoblastoid Cell Line
 723  
DNA
 723    721    722  

178731, proband
732, mother  
 congenital  -  Unknown          Lymphoblastoid Cell Line
 731    732  
DNA
 731    732  

179540, proband
541, father
542, mother  
 Rett-like  -  Unknown          DNA
 540    541    542  

180613, proband    classic Rett  -  Unknown          Leucocytes in DMSO medium
 613    613b  
Lymphoblastoid Cell Line
 613    613  
DNA
 613    613b  

1811009, proband
1010, father
1008, mother  
 Rett-like  -  Unknown          DNA
 1009    1010    1008  

182788, proband
789, mather  
 Rett-like  -  Unknown          Lymphoblastoid Cell Line
 788b  
DNA
 788    788c    789  

183864,
775, mother
774, father  
 early seizures variant  -  Unknown          Leucocytes in DMSO medium
 864    864    775    774  
DNA
 864    774    775  

184523, proband
524, mother
525, father  
 PSV  -  Unknown          DNA
 523    524    525  

186682, proband
684, mother
683, father  
 PSV  -  Unknown          DNA
 682    682b    684    683  

187517, proband
756, mother
758, father  
 PSV  -  Unknown          Lymphoblastoid Cell Line
 517  
DNA
 517    756    758  

1881170, proband
1171, father
1172, mother  
 classic Rett  32  MECP2  early truncating  502C>T  R168X    Leucocytes in DMSO medium
 1170  
DNA
 1170    1171    1172  

189100, proband
98, mother
99, father  
 classic Rett  -  MECP2  gene deletion        DNA
 100    98    99  

190263,
264, mother
265, father  
 classic Rett  38  MECP2  gene deletion        Leucocytes in DMSO medium
 263  
DNA
 263    264    265  

191819, proband
820, father
821, mother  
 classic Rett  39  MECP2  gene deletion        DNA
 819    820    821  

1921055,
1053, father
1054, mother  
 classic Rett  34  MECP2  gene deletion        Leucocytes in DMSO medium
 1055  
DNA
 1055    1053    1054  

1931063, proband
1064, father
1065, mother  
 classic Rett  15  MECP2  gene deletion        DNA
 1063    1064    1065  

194951,
952, father
953, mother  
 classic Rett  22  MECP2  gene deletion        Leucocytes in DMSO medium
 951  
DNA
 951    952    953  

1951004, proband
1005, father
1006, mother  
 classic Rett  28  MECP2  gene deletion        DNA
 1004    1005    1006  

1961081, proband
1082, mother
1083, father  
 PSV  13  MECP2  missense  916C>T  R306C    DNA
 1081    1082    1083  

197897, Proband
896,
898, father
899, mother  
 classic Rett  -  MECP2  gene deletion        Lymphoblastoid Cell Line
 897 b    896  
DNA
 897    898    899    896  

198896, Proband
898, father
899, mother
897, affected sister (classic Rett)  
 high functioning PSV  -  MECP2  gene deletion        Lymphoblastoid Cell Line
 896 B  
DNA
 898    899    897    896  

199139, proband
138, affected sister (classic Rett)
137, mother (carrier)
666, sister  
 PSV  13  MECP2  late truncating  1157del32  L386fs    Leucocytes in DMSO medium
 139    138  
Lymphoblastoid Cell Line
 139    138    137  
DNA
 139    138    137    666  
Zappella et al, 2001
2001211, proband
1212, father
1213, mother  
 classic Rett  29  MECP2  late truncating  1162_1187del26  P388Xfs    Lymphoblastoid Cell Line
 1211    1212    1213    1212    1213    1211  
DNA
 1212    1213    1211  

2011112, proband
1113, father
1114, mother  
 classic Rett  -  MECP2  early truncating  808C>T  R270X    Lymphoblastoid Cell Line
 1112    1113    1114    1112  
DNA
 1112    1114    1113  

2021180, proband
1181, father
1182, mother  
 PSV  21  MECP2  late truncating  1163_1179del17  P388Xfs    Leucocytes in DMSO medium
 1180  
DNA
 1180    1181    1182  

2031136, father
1138, proband
1137, mother  
 Rett-like  -  MECP2  early truncating  502C>T  R168X    Leucocytes in DMSO medium
 1136  
Lymphoblastoid Cell Line
 1136  
DNA
 1138    1137    1136  

204962, proband
963, father
964, mother  
 early seizures variant  -  Unknown          Leucocytes in DMSO medium
 962  
Lymphoblastoid Cell Line
 962  
DNA
 962    963    964  

205965, proband
966, father
967, mother  
 early seizures variant  -  Unknown          Leucocytes in DMSO medium
 965    966    967  
Lymphoblastoid Cell Line
 965    965 B  
DNA
 965    966    967  

206968, proband
970, mother
969, father  
 congenital  32  FOXG1  late truncating  969delC  S323fsX325    Leucocytes in DMSO medium
 968  
Lymphoblastoid Cell Line
 968 b  
Fibroblast
 968  
DNA
 968    970    969  
Ariani F. et al., Am J Hum Genet, 2008
207985, proband
988, father
987, mother  
 PSV  -  MECP2  late truncating  1164_1207del  P388fsX403    Leucocytes in DMSO medium
 985  
DNA
 985    988    987  

208978, proband
979, mother
977, father  
 classic Rett  -  MECP2  late truncating  1157-1188del32  L386fs    Leucocytes in DMSO medium
 978    979    977  
DNA
 978    979    977  

20986, proband
256, mother
266, father  
 classic Rett  -  MECP2  early truncating  38_48del      DNA
 86    256    266  

210631, proband
632, father
634, mother  
 classic Rett  32  MECP2  early truncating  763C>T  R255X    Leucocytes in DMSO medium
 631  
DNA
 631    632    634  

211703, father
704, mother  
 classic Rett  -  MECP2  missense  455C>G  P152R    Lymphoblastoid Cell Line
 703  
DNA
 703    704  

2121047,
1048, father
1049, mother
1050, sister  
 classic Rett  -  MECP2  early truncating  763C>T  R255X    Leucocytes in DMSO medium
 1047  
DNA
 1047    1048    1049    1050  

2131092, proband    classic Rett  -  MECP2  early truncating  763C>T  R255X    DNA
 1092  

2141167, proband
1168, father
1169, mother  
 classic Rett  26  MECP2  early truncating  880C>T  R294X    Leucocytes in DMSO medium
 1167  
DNA
 1167    1168    1169  

2151115, proband
1116, father
1117, mother  
 classic Rett  -  MECP2  early truncating  710delG      DNA
 1115    1116    1117  

2161149, proband
1325, mother
1326, father  
 classic Rett  -  MECP2  early truncating  423C>G  Y141X    DNA
 1149    1325    1326  

2171193, proband    classic Rett  18  MECP2  late truncating  1162_1179del18      DNA
 1193  

2181217, proband
1218, father
1219, mother  
 classic Rett  -  MECP2  early truncating  540delA      DNA
 1217    1218    1219  

2191226, proband    classic Rett  24  MECP2  missense  455C>G  P152R    DNA
 1226  

2201334, proband    PSV  14  MECP2  late truncating  1163del44      Leucocytes in DMSO medium
 1334  
DNA
 1334  

2211263, proband
1264, father
1265, mother  
 classic Rett  21  MECP2  late truncating  1052_1188del37      Leucocytes in DMSO medium
 1263  
DNA
 1263    1264    1265  

222511, proband
1158, Father
1159, mother  
 Rett-like  -  Unknown          Lymphoblastoid Cell Line
 511  
DNA
 511    1158    1159  

2231239, proband
1240, Mother
1241, father  
 classic Rett  -  MECP2  gene deletion        DNA
 1239    1240    1241  

224166, proband
170, father
171, mother  
 classic Rett  36  MECP2  gene deletion        Leucocytes in DMSO medium
 166  
DNA
 166    170    171  

225161, proband
162, father
163, mother  
 classic Rett  -  MECP2  gene deletion        Leucocytes in DMSO medium
 161  
DNA
 161    162    163  

2261425, proband
1428, Padre
1429, Madre  
 PSV  8  MECP2  late truncating  1163-1201del38      Leucocytes in DMSO medium
 1425  
Fibroblast
 1425  
DNA
 1428    1429    1425  

2271322, proband
1323, father
1324, mother  
 early seizures variant  27  CDKL5  missense  532C>T  R178W    DNA
 1322    1323    1324  

2281259, proband
1260, father
1261, madre  
 classic Rett  -  MECP2  early truncating  576C>T  R168X    Lymphoblastoid Cell Line
 1259  
DNA
 1259    1260    1261  

2291256, proband
1257, Madre
1445, Padre  
 classic Rett  18  MECP2  early truncating  423C>G  Y141X    Lymphoblastoid Cell Line
 1256  
DNA
 1256    1257    1445  

2301294, Proband
1295, Padre
1296, Madre  
 classic Rett  -  MECP2  late truncating  C.1157 del 40      DNA
 1294    1295    1296  

2311176, Proband
1177, Padre
1179, Sorella  
 classic Rett  -  MECP2  late truncating  c.1157del41      DNA
 1176    1177    1179  

232888,
889,  
 ND (age less than 4 years)  -  MECP2  early truncating  466G>T  D156Y    Lymphoblastoid Cell Line
 888    889  
DNA
 888    889  

2331299,
1300, Madre
1301, Padre  
 classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 1299    1300    1301  

2341253, Proband
1254, madre
1255, Padre  
 classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 1253    1254    1255  

2351369, Proband
1368, Madre  
 classic Rett  -  MECP2  early truncating  808C>T  R270X    DNA
 1369    1368    1369  

2361400, Proband
1401, Padre
1402, Madre  
 classic Rett  -  MECP2  late truncating  c.975 del122 ins 78      DNA
 1400    1401    1402  

2371409, Proband
1408, Madre
1407, Padre  
 classic Rett  -  MECP2  gene deletion        DNA
 1409    1408    1407  

238399, Proband
398, mother
908, Father  
 classic Rett  -  MECP2  early truncating  763C>T  R255X    DNA
 399    398    908  

2391384, Proband
1385, Father
1386, Mother  
 classic Rett  -  MECP2  missense  917G>A  R306H    Leucocytes in DMSO medium
 1384  
DNA
 1385    1386    1384  

2401233, Proband
1234, Father
1235, Mother  
 early seizures variant  -  Unknown          Leucocytes in DMSO medium
 1233    1234  
DNA
 1233    1234    1235  

2411329, Proband
1330, Father
1331, Mother  
 Rett-like  -  Unknown          DNA
 1329    1330    1331  

2421460, Proband
1461, Father
1462, Mother  
 classic Rett  -  MECP2  early truncating  880C>T  R294X    Leucocytes in DMSO medium
 1460  
DNA
 1460    1461    1462  

2431506, Proband
1508, Mother
1507, Father  
 classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 1506    1508    1507  

2441516, Mother
1515, Proband
1517, Sib  
 classic Rett  -  MECP2  early truncating  808C>T  R270T    DNA
 1516    1515    1517    1515  

2451524, Proband
1521, Father
1525, Mother  
 classic Rett  -  MECP2  late truncating        DNA
 1524    1521    1525  

2461542, Proband
1544, Mother
1543, Father  
 ND (age less than 4 years)  -  MECP2  early truncating  808C>T  R270X    DNA
 1542    1544    1543  

2471564, Proband
1565, Father
1566, Mother  
 early seizures variant  26  CDKL5  missense  395T>G  V132G    DNA
 1564    1565    1566  

2481615, Proband
1616, Father
1617, Mother  
 early seizures variant  23  CDKL5  missense  211A>G  N71D    Leucocytes in DMSO medium
 1615    1616  
DNA
 1615    1616    1617  

2491567, Proband
1568, Father
1569, Mother  
 early seizures variant  25  CDKL5  early truncating  1039C>T  Q347X    Fibroblast
 1567  
DNA
 1567    1568    1569  

2501607, Proband
1608, Father
1609, Mother
1629, Sib  
 classic Rett  25  MECP2  missense  905C>T  P302L    Leucocytes in DMSO medium
 1607  
DNA
 1607    1608    1609    1629  

2511559, Proband
1560, Father
1561, Mother  
 early seizures variant  -  CDKL5  missense  863C>T  T288I    Leucocytes in DMSO medium
 1559  
DNA
 1559    1560    1561  

2521929, Probando
1930, Padre
1931, Mother  
 classic Rett  18  MECP2  missense  316C>T  R106W    DNA
 1929    1930    1931  

2531635, Probando
1636, Padre
1637, Madre  
 classic Rett  6  MECP2  late truncating  1160_1166delCCCCACC  P387fsX406    DNA
 1635    1636    1637  

2541578, Proband
1690, Padre
1691, Madre  
 classic Rett  22  MECP2  early truncating  753delC  G252fsX288    Lymphoblastoid Cell Line
 1578  
DNA
 1578    1690    1691  

255783, Probando
785, Pdre
784, Madre  
 classic Rett  22  MECP2  missense  397C>T  R133C    DNA
 783    785    784  

2561290, probanda
1291, Madre
1292, Padre
1293, Sorella  
 classic Rett  -  MECP2      K286fsX330    DNA
 1290    1291    1292    1293  

2571413, probanda    ND (age less than 4 years)  -  MECP2  missense  1234G>A  V412I    DNA
 1413  

2581610, probanda
1625, padre
1626, Madre  
 ND (age less than 4 years)  -  MECP2  early truncating  763C>T  R255X    DNA
 1610    1625    1626  

2591614, probanda
1618, padre
1619,  
 classic Rett  -  MECP2  early truncating  763C>T  R255X    DNA
 1614    1618    1619  

2601479, Proband
1481, Father
1480, Mother  
 Rett-like  -  Unknown          DNA
 1479    1481    1480  

2611013, Proband
1014, Father
1015, Mother  
 Rett-like  -  Unknown          Leucocytes in DMSO medium
 1013  
DNA
 1013    1014    1015  

2621187, Proband
1190, Father
1191, Mother  
 Rett-like  -  Unknown          DNA
 1187    1190    1191  

2631627, proband
1628, madre  
 ND (age less than 4 years)  -  MECP2  missense  C473T  T158M    DNA
 1627    1628  

2641908, proband
1909, padre
1910, madre  
 ND (age less than 4 years)  -  MECP2  missense  C397T  R133C    DNA
 1908    1909    1910  

2651, Proband
2, Mother
3, father  
 congenital  -  FOXG1  early truncating  924G>A  Trp.308X    Lymphoblastoid Cell Line
 001  
DNA
 001    002    003  
Philippe et al, J Med Genet 2009
2664, Proband
5, Mother
6, Father  
 classic Rett  -  FOXG1  early truncating  1200C>G  Tyr400X    DNA
 004    005    006  
Philippe et al, J Med Genet 2009
2671858, proband
1859, mother
1860, father  
 early seizures variant  -  CDKL5  gene deletion  deletion exon 7 and 8      DNA
 1858    1859    1860  

2681923, Proband
1924, Father
1925, Mother  
 early seizures variant  -  CDKL5  early truncating  509_510delAG  E170fsX193    DNA
 1923    1924    1925  

269200, proband
201, Mother
202, father  
 classic Rett  -  MECP2  gene deletion        DNA
 200    201    202    200b    201b  

2701302, proband
1303, father
1304, mother  
 classic Rett  -  MECP2  gene deletion        DNA
 1302    1303    1304  

2711635, proband
1636, father
1637, mother  
 ND (age less than 4 years)  -  MECP2    1160_1166delCCCCACC  P387fsX406    DNA
 1635    1636    1637  

2721584, Proband
1585, father
1586, mother  
 classic Rett  -  MECP2  gene deletion        Leucocytes in DMSO medium
 1584  
DNA
 1584    1585    1586  

2731905,
1906, father
1907, mother  
 Rett-like  -  Unknown          DNA
 1905    1906    1907  

2741867, proband
1868, mother
1869, father  
 Rett-like  -  Unknown          DNA
 1867    1868    1869  

2751499, proband
1500, Father
1501, mother  
 Rett-like  -  Unknown          DNA
 1499    1499 B    1500    1501  

276164, proband
165, mother  
 ND (age less than 4 years)  -  Unknown          Leucocytes in DMSO medium
 164  
DNA
 164    164b    165  

2771435,
1436, mother  
 Rett-like  -  Unknown          DNA
 1435    1436  

2781161, Proband
1162, Father  
 Rett-like  -  Unknown          Lymphoblastoid Cell Line
 1161  
DNA
 1161    1162  

2791539, proband
1541, mother
1540, father  
 Rett-like  -  Unknown          DNA
 1539    1539 B    1541    1540  

280678, Proband
679, Father
680, Mother  
 ND (age less than 4 years)  -  Unknown          DNA
 678    679    680  

281922, proband
923, mother  
 Rett-like  -  Unknown          Leucocytes in DMSO medium
 922  
DNA
 922    923  

2821160, proband
1509, father
1510, mother  
 Rett-like  -  Unknown          Lymphoblastoid Cell Line
 1160    1160 B  
DNA
 1160    1509    1510  

2831410, proband
1411, father
1412, mother  
 Rett-like  -  Unknown          DNA
 1410    1411    1412  

2841151, Proband
1152, Father
1153, Mother  
 Rett-like  -  Unknown          DNA
 1151    1152    1153  

285273, proband
272, father
271, mother  
 ND (age less than 4 years)  -  Unknown          DNA
 273    272    271  

286647, proband
648, father
649, mother  
 Rett-like  -  Unknown          DNA
 647    648    649  

2871547, proband
1545, father
1546, mother  
 Rett-like  -  Unknown          DNA
 1547    1545    1546  

2882029,
2030, Father
2031, Mother  
 ND (age less than 4 years)  -  Unknown          DNA
 2029    2030    2031  

2891473, proband
1474, father
1475, mother  
 ND (age less than 4 years)  -  Unknown          DNA
 1473    1474    1475  

2901528, proband
1529, father
1530, mother  
 Rett-like  -  Unknown          DNA
 1528    1528 B    1529    1530  

2911526, proband
1527, father
1854, mother  
 ND (age less than 4 years)  -  Unknown          DNA
 1526    1527    1854  

2921611, Proband
1612, Father
1613, Mother  
 ND (age less than 4 years)  -  Unknown          DNA
 1611    1612    1613  

2932013, Proband
2008, Father
2009, Mother  
 ND (age less than 4 years)  -  Unknown          DNA
 2013    2008    2009  

2941552, Proband
1553, Father
1554, Mother  
 Rett-like  -  Unknown          DNA
 1552    1553    1554  

2951426, proband
1427, father  
 ND (age less than 4 years)  -  Unknown          DNA
 1426    1427  

2961220,
1222, Mother
1221, father  
 ND (age less than 4 years)  -  Unknown          DNA
 1220    1222    1221  

2971456, Proband
1457, Father
1458, Mother  
 Rett-like  -  Unknown          DNA
 1456    1457    1458  

2981465, proband
1466, mother  
 Rett-like  -  Unknown          DNA
 1465    1466  

2991440, Proband
1441, Mother  
 Rett-like  -  Unknown          DNA
 1440    1441  

30084, Proband
81, Mother
82, Father
83, Sister  
 ND (age less than 4 years)  -  Unknown          DNA
 84    81    82    83  

3011266, proband    ND (age less than 4 years)  -  Unknown          Leucocytes in DMSO medium
 1266  
DNA
 1266  

3021371, proband
1372, father
1373, mother  
 Rett-like  -  Unknown          DNA
 1371    1372    1373  

3031276, proband
1278, father
1277, mother  
 Rett-like  -  Unknown          DNA
 1276    1278    1277  

3041315, Proband
1319, Father
1316, Mother  
 Rett-like  -  Unknown          DNA
 1315    1319    1316  

3051366, proband    Rett-like  -  Unknown          DNA
 1366  

3061312, Proband
1313, Father
1314, Mother  
 Rett-like  -  Unknown          Leucocytes in DMSO medium
 1312  
DNA
 1312    1313    1314  

307    ND (age less than 4 years)  -            
3082051, proband
2052, mother
2053, father  
 classic Rett  -  MECP2  missense  C473T  T158M    DNA
 2051    2052    2053  

3092101, Proband
2102, Father
2103, Mother  
 classic Rett  34  MECP2  early truncating  808C>T  R270X    DNA
 2101    2102    2103  

3102115, probanda
2116, mother
2122, father  
 classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 2115    2116    2122  

311989, Proband
990, Mother
991, Father  
 congenital  -  FOXG1  early truncating  136C>T  Q46X    Leucocytes in DMSO medium
 989    990    991  
DNA
 989    989b    989c    989d    989e    990    990b    991    991b    991c  

3122085, Proband
2086, Father
2087, Mother  
 classic Rett  -  MECP2  early truncating  763C>T  R255X    DNA
 2085    2086    2087  

3132158, proband
2159, Mother  
 PSV  -  MECP2  missense  397C>T  R133C    DNA
 2158    2159  

3142223, Proband
2224, Father
2225, Mother  
 ND (age less than 4 years)  -  MECP2  missense  455C>G  P152R    DNA
 2223    2224    2225  

3152227, Proband
2334, Father
2335, Mother  
 classic Rett  -  MECP2  late truncating  1151_1352del202  P384fs    DNA
 2227    2334    2335  

3162235, Proband
2236, Mother  
 classic Rett  -  MECP2  early truncating  880C>T  R294X    DNA
 2235    2236  

3171861, Proband
1862, Father
1863, Mother  
 classic Rett  -  MECP2    IVS3-3 C>G      DNA
 1861    1862    1863  
Fukuda et al,, 2005
3182061, Proband
2190, Father
2191, Mother  
 early seizures variant  -  CDKL5  missense  551T>A  L184H    DNA
 2061    2190    2191  

3192076, Proband
2077, Father
2078, Mother  
 early seizures variant  -  CDKL5    1648C>T  R550X    Leucocytes in DMSO medium
 2076    2077    2078  
DNA
 2076    2077    2078  

32097, Proband
94, Father
92, Mother  
 classic Rett  -  MECP2    delezione esone 1      DNA
 97    94    92  

3211387, Proband
1388, Father
1389, Mother  
 classic Rett  -  MECP2  missense  473C>T  T158M    DNA
 1387    1388    1389  

3221258, Proband
1317,
1318, Mother  
 ND (age less than 4 years)  -  MECP2  missense  401C>G  S134P    Lymphoblastoid Cell Line
 1258  
DNA
 1258    1317    1318  

323395, Proband
396, Father
397, Mother  
 classic Rett  -  MECP2  early truncating  763C>T  R255X    DNA
 395    396    397  

324390, Proband
388, Father
389, Mother  
 classic Rett  -  MECP2  missense  468C>G  D156E    DNA
 390    388    389  

3252165, Proband    classic Rett  -  MECP2  missense  473C>T  T158M    DNA
 2165  

3262204, Proband
2206, Father
2207, Mother  
 classic Rett  -  MECP2  missense  473C>T  T158M    Fibroblast
 2204  
DNA
 2204    2206    2207  

3272193, Proband
2194, Father
2195, Mother  
 classic Rett  -  MECP2  missense  473C>T  T158M    DNA
 2193    2194    2195  

3282136, proband
2137, Father
2138, Mother  
 classic Rett  -  MECP2  early truncating  611C>G  S204X    DNA
 2136    2137    2138  

3291393, Proband
1815, Father
1816, Mother  
 classic Rett  -  MECP2  early truncating  808C>T  R270X    Lymphoblastoid Cell Line
 1393  
Fibroblast
 1393  
DNA
 1393    1393b    1815    1816  

330387, Proband
2297, father
2298, Mother  
 ND (age less than 4 years)  -  MECP2  early truncating  763C>T  R255X    DNA
 387    2297    2298  

3311599, Mother
1598, Proband
1600, Grandfather
1601, Grandmother  
 classic Rett  -  MECP2    1163del44      Leucocytes in DMSO medium
 1599  
DNA
 1598    1599    1600    1601  

3321575, Proband
1576, Father
1577, Mother  
 classic Rett  -  MECP2  early truncating  808C>T  R270X    DNA
 1575    1576    1577  

3331555, Proband
1556, Father
1557, Mother  
 ND (age less than 4 years)  -  MECP2  early truncating  13delGCCCGC  R5fsX39    DNA
 1555    1556    1557  

3341463, Proband
1464, Mother  
 classic Rett  -  MECP2    delG332-333      DNA
 1463    1464  

335205, Proband
206, Mother
210, Father  
 ND (age less than 4 years)  -  MECP2    delezione esone 3      DNA
 205    206    210  

3362271, proband
2272, Father
2273, Mother  
 classic Rett  -  MECP2  missense  473C>T  T158M    DNA
 2271    2272    2273  

3372240, Proband
2241, father
2242, Mother  
 classic Rett  -  MECP2  missense  472A>C  T158P    DNA
 2240    2241    2242  

3382214, Proband
2215, Father
2216, Mother  
 classic Rett  -  MECP2    1164_1189del      Leucocytes in DMSO medium
 2214  
DNA
 2214    2215    2216  

3392038, Mother    classic Rett  -  MECP2  missense  916C>T  R306C    DNA
 2038  

3401596, Proband
1597, Mother  
 ND (age less than 4 years)  -  MECP2  gene duplication        DNA
 1596    1597  

3412262, proband
2263, Father
2264, Mother  
 classic Rett  -  MECP2  missense  916C>T  R306C    DNA
 2262    2263    2264  

3422243, Proband
2244, Father
2245, Mother  
 classic Rett  -  MECP2    1124_1176del      DNA
 2243    2244    2245  

3432285, Proband    ND (age less than 4 years)  -  MECP2  gene deletion        DNA
 2285  

3442261, Proband    ND (age less than 4 years)  -  MECP2    delezione parziale ex 4      DNA
 2261  

3452166, Proband
2172, Mother
2173, Father  
 classic Rett  -  MECP2  early truncating  473C>T  R270X    DNA
 2166    2166 b    2172    2173    2166    2166 b    2172    2173  

3462093, Proband
2094, Father
2095, Mother  
 classic Rett  -  MECP2  missense  473C>T  T158M    DNA
 2093    2094    2095  

3472238, proband    classic Rett  -  MECP2  early truncating  763C>T  p.R255X    Fibroblast
 2238  
DNA
 2238  

3482312, Proband    classic Rett  -  MECP2  early truncating  C502T  R168X    Fibroblast
 2312  
DNA
 2312  

3492299, Proband
2300, Father
2301, Mother  
 classic Rett  -  MECP2    exon 4 partially deleted      Lymphoblastoid Cell Line
 2299  
DNA
 2299    2300    2301  

3512082, Proband
2083, Mmother
2084, Father  
 ND (age less than 4 years)  -  Unknown          Lymphoblastoid Cell Line
 2082  
DNA
 2082    2083    2084  

3522302, Proband    classic Rett  -  MECP2  missense  473C>T  T158M    Fibroblast
 2302  

3532268, Proband
2269, Father
2270, Mother  
 classic Rett  -  MECP2    del ex3, partially ex 4      DNA
 2268    2269    2270  

3542282, Proband
2281, Father  
 classic Rett  -  MECP2    del ex 3-4      DNA
 2282    2281    2281  

3552258, Proband
2259, Mother
2260, Father  
 classic Rett  -  MECP2    864_1272del  K289_L424del    DNA
 2258    2259    2260    2258 b  

3562277, Proband
2278, Mother
2279, Father  
 classic Rett  -  MECP2  missense  401C>G  S134C    DNA
 2277    2278    2279  

3572331, Proband    ND (age less than 4 years)  -  MECP2  early truncating  108_111del  E37Xfs    DNA
 2331  

3582349, Proband
2350, Father
2351, Mother  
 classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 2349    2350    2351  

3592366, Proband
2365, Mother
2364, Father  
 classic Rett  -  MECP2  early truncating  808C>T  R270X    DNA
 2366    2365    2364  

3602332, Proband
2333, Mother  
 classic Rett  -  MECP2  missense  473C>T  T158M    DNA
 2332    2333  

3612362, proband    congenital  -  FOXG1  gene deletion        Fibroblast
 2362  

3622249, Proband
2250, Mother
2251, Father  
 classic Rett  -  MECP2  missense  468C>G  D156E    Fibroblast
 2249    2250  
DNA
 2249    2250    2251    2251 II    2250 II  

3632378, Proband
2379, Mother  
 PSV  -  MECP2  missense  397C>T  R133C    DNA
 2378    2379  

3642345, Proband
2346, Father
2347, Mother  
 early seizures variant  -  CDKL5  missense  446T>C  L149P    DNA
 2345    2346    2347  

3652388, Proband
2389, Mother  
 classic Rett  -  MECP2  missense  401C>T  S134F    DNA
 2388    2389  

3662396, Proband
2397, Father
2398, Mother
7425, Proband  
 classic Rett  -  MECP2  missense  916C>T  R306C    DNA
 2396    2397    2398    7425/21  
buffy coat nuovo
 2397    2397  
buffy coat
 2397    2397  
blood sample
 2396  

3671638, Proband
1633, Father
1634, Mother
1653, Step brother  
 early seizures variant  -  CDKL5  late truncating  1090G>T  E364X    DNA
 1638    1633    1634    1653  
blood sample
 1633  

3681535, Proband
1536, Proband
1537, Mother  
 early seizures variant  -  CDKL5  missense  225T>A  I72N    Leucocytes in DMSO medium
 1535  
Lymphoblastoid Cell Line
 1535  
DNA
 1535    1536    1537  
blood sample
 1536  

3691091, Proband
2155, Mother
2156, Father  
 congenital  -  FOXG1  missense  681C>G  N227K    DNA
 1091    2155    2156  

3702444, Proband    classic Rett  -  MECP2  missense  455C>G  P152R    Fibroblast
 2444  
DNA
 2444  

3712434, Proband
2435, Father
2436, Mother  
 classic Rett  -  MECP2  early truncating  502C>T  R168X    DNA
 2434    2435    2436  

3722393, Proband
2394, Father
2395, Mother  
 ND (age less than 4 years)  -  MECP2  late truncating  1155_1198del44  Q386Xfs    DNA
 2393    2394    2395  

3732428, Proband
2470, Mother  
 ND (age less than 4 years)  -  MECP2  early truncating  806delG  G269Xfs    DNA
 2428    2470  

3742403, Father
2404, Mother
2402, Proband  
 classic Rett  -  MECP2  late truncating        Plasma
 2403    2404  
DNA
 2402    2403    2404  

3752455, Proband
2452, Father
2453, Mother  
 early seizures variant  -  CDKL5  late truncating  868C>T  Q290X    DNA
 2455    2452    2453  

376852, Proband    Rett-like  -  FOXG1  gene deletion        DNA
 852  

3772445, Proband    early seizures variant  -  CDKL5  late truncating  964dupA  T322NfsX4    Fibroblast
 2445  
DNA
 2445  

3782205, Proband    classic Rett  -  MECP2  late truncating  1326_1327insC  A443Xfs    Fibroblast
 2205  
DNA
 2205  

3792234, Proband    classic Rett  -  MECP2  missense  916C>T  R306C    Fibroblast
 2234  

3802239, Proband    classic Rett  -  MECP2  missense  473C>T  T158M    Fibroblast
 2239  
DNA
 2239  

3812123, Proband    classic Rett  -  MECP2  early truncating  763C>T  R255X    DNA
 2123  

3822477, Proband
2478, Father
2479, Mother  
 classic Rett  -  MECP2  missense  468C>G  D156E    DNA
 2477    2478    2479  

3832348, Proband    congenital  -  FOXG1  early truncating    del parziale ex 1    DNA
 2348  

384302, Proband    early seizures variant  -  CDKL5  early truncating  554+5G>A  G155Afs42X    DNA
 302/2013  

385    congenital  -  FOXG1  gene deletion        
386    congenital  -  Unknown          
387934, Proband    congenital  -  FOXG1  gene deletion        DNA
 934/2013  

388    congenital  -  FOXG1  early truncating  460dupG  Glu154Glyfs*301    
389    congenital  -  FOXG1  late truncating  738C>A  Y246X    
390    congenital  -  Unknown  late truncating  738C>A  Y246X    
391    classic Rett  -  MECP2  missense  397C>T  R133C    
3921136, proband
1138, mother
1137, father  
 classic Rett  -  MECP2  early truncating  1156_1196del41  L386Hfs*5    DNA
 1136/2013    1138/2013    1137/2013  

393766, Proband
1488, Father
1489, Mother  
 ND (age less than 4 years)  -  CDKL5  missense  3004 G>A  Val456Ile    DNA
 766/2013    1488/2013    1489/2013  

394166, father
167, mother  
 classic Rett  -  CDKL5  early truncating  2322-2323delAG  K776Afs*24    DNA
 166/2014ret    167/2014ret  

395    ND (age less than 4 years)  -            
396789, proband    ND (age less than 4 years)  -  FOXG1  missense  610C>G  L204V    DNA
 789/14ret  

397566, proband    ND (age less than 4 years)  -  MECP2  gene deletion  esone 3 e parziale esone 4      DNA
 566/2013  

398782, proband    classic Rett  -  MECP2  early truncating  1116_1201del86  H372Qfs*    DNA
 782/14ret  

3991130, probando
1131, parent
1132, parent  
 classic Rett  -  MECP2  early truncating  763C>T  Arg255*    DNA
 1130/14ret    1131/14    1132/14  

4001260, mother
1261, proband  
 ND (age less than 4 years)  -  CDKL5    744+1G>C      DNA
 1260/14ret    1261/14ret  

401284, proband    congenital  -  FOXG1  gene deletion        DNA
 284/14ret  

402378, proband
379, father
380, Mother  
 congenital  -  FOXG1  gene deletion        DNA
 378/15ret    379/15ret    380/15ret  

403355, proband
356, mother  
 classic Rett  -  MECP2  early truncating  1164_1207del44  Pro389*    DNA
 355/15    356/15  

4041094,
1095,  
 PSV  -  MECP2  early truncating  880C>T  Arg294*    Plasma
 1094/15  
DNA
 1095/15  

4051037, proband    classic Rett  -  MECP2  early truncating  1164_1207del  Pro389*    DNA
 1037/2015  

406452, proband    ND (age less than 4 years)  -  FOXG1  early truncating  460dup  Glu154fs*301    DNA
 452/2013  

4072454, proband
1275, father
1276, mother  
 classic Rett  -  MECP2  early truncating  763C>T  Arg255*    DNA
 2454    1275/15ret    1276/15ret  

408632, proband    ND (age less than 4 years)  -  MECP2  missense  880C>T  Arg294*    DNA
 632/17  

4092237, proband    congenital  -  FOXG1  missense  688C>T  Arg230Cys    Fibroblast
 2237/17  

4103328,    ND (age less than 4 years)  -  Unknown  early truncating  808C>T  R270X    blood sample
 3328/16  

4112717, proband    ND (age less than 4 years)  -  FOXG1  early truncating  256dup  Gln86Profs*35    DNA
 2717/17  

4122719, proband    ND (age less than 4 years)  -  Unknown  early truncating  974_975insA  Ser326Glufs*129    DNA
 2719/17  

413564, proband    ND (age less than 4 years)  -  Unknown  gene deletion        DNA
 564/16  

4141156, proband    ND (age less than 4 years)  -  Unknown  gene duplication        DNA
 1156/15  

4154027, proband    ND (age less than 4 years)  -  Unknown  missense  681C>G  Asn227Lys    DNA
 4027/16  

4161832,    classic Rett  -  CDKL5  missense  397c>t  His133Tyr)    DNA
 1832/17  

417-2696, proband    ND (age less than 4 years)  -  FOXG1  missense  708C>A  Asn236Lys    DNA
 2696-17  

4181661, proband    forme fruste  -  MECP2  late truncating  1163del44  Pro389*    DNA
 1661/17  

4191661,    ND (age less than 4 years)  -  MECP2    1164_1207del  Pro389*    DNA
       

4201661,    Rett-like  -  MECP2  missense  916C>T  Arg306Cys    DNA
   

421    ND (age less than 4 years)  -  MECP2  late truncating  1164_1207del  Pro389*    
4221478, Proband    Rett-like  -  Unknown  early truncating  4110_4111 del  Tyr1371Glnfs*15    DNA
 1478/2013  

4231325, Proband    Rett-like  -  MECP2  missense  901C>G  Leu301Val    DNA
 1325/2013  

4241325, Proband    Rett-like  -  Unknown  early truncating  4039dupG  Ala1347Glyfs*40    DNA
   

4251325, Proband    Rett-like  -  Unknown  early truncating  3613_3613delC  (leu1205trpfs*192)    DNA
   

4262442, Proband    congenital  -  FOXG1  missense  610C>G  (Leu204Val)    DNA
 2442/18  

4272442,    congenital  -  FOXG1  gene deletion        DNA
   

428    ND (age less than 4 years)  -  FOXG1  early truncating  1414_1417del  Ser472Ilefs*15    
4293827, proband    ND (age less than 4 years)  -  MECP2  missense  433C>T  Arg145Cys    DNA
 3827/20  

4305675, proband    Rett-like  -  MECP2  missense  397C>T  Arg133Cys    DNA
 5675/21  

4311091, Proband
1092, Mother
1093, Mother  
 high functioning PSV  -  MECP2  missense  925C>T  Arg309Trp    DNA
 1091/21    1092/21    1093/21  

432    Rett-like  -  MECP2  missense  341G>A  Gly114Asp    
4336109, Proband
6108, Proband
6135, Proband  
 classic Rett  -  MECP2  missense  473C>T  T158M    Lymphoblastoid Cell Line
 6109/21  
DNA
 6108/21  
skin biopsy
 6135/21  

434    PSV  -  Unknown  missense  1030C>T  Arg344Trp