The bank is active since 1998 and it is located in the Medical
Genetics Unit, at the University Hospital of Siena.
The bank is divided in three distinct sections:
1- Rett Syndrome. This section contains samples from patients
affected by Rett syndrome, a neurodegenerative disease affecting
almost exclusively girls with an estimated frequency of 1:10000-15000
live born. By accessing the section users can see a list
of all patients available with their phenotype, the specific
MECP2 or CDKL5 mutation if known and the kind of biological
samples available for each patient. The availability of this
large panel of patients is potentially important for the
clarification of the molecular bases of Rett syndrome. In
fact, a 20-30% of Rett cases do not have MECP2 or CDKL5 mutations.
These patients might bear intronic/promoter MECP2 or CDKL5
mutations or they might have alterations in one or more genes
different from MECP2 or CDKL5, as suggested by the identification
of various chromosomal rearrangements. To confirm a causative
role of these rearrangements, and to identify the relevant
gene/s, it is important to collect a great number of patients
in which to search for overlapping rearrangements or point
mutations in candidate genes.
2- X-Linked Mental Retardation. This section
contains samples collected by the centers belonging to
the Italian network on X-linked mental retardation, which
includes the laboratory of bank curators (for specific
information on the network goals and organization, go to
the section page). Mental retardation (MR) is the most
frequent cause of serious handicap in humans with an estimated
prevalence of 0,3-0,5% for moderate to severe MR (IQ<50)
which increases to 1-1,5% when mild MR (IQ 50-70) is included.
It is calculated that about 20-25% of mentally retarded
males have a mutation in a gene on the X chromosome (X-linked
mental retardation). X-linked mental retardation is a genetically
heterogeneous condition. This is particularly true for
the non-syndromic form (MRX), where MR is the only consistent
clinical finding and no distinctive features between patients
exist. In this situation the only possibility to group
patients from different families is represented by linkage
analysis, which needs the availability of large families.
However, families linked to the same region demonstrate
different causative genes. In these conditions, the number
of patients available for analysis is a discriminating
factor since a large number of patients need to be tested
in order to fully confirm or exclude the involvement of
a gene in MRX.
3- Other. This section of the bank contains biological materials
and clinical data of patients with other genetic disorders
(different from Rett and X-linked mental retardation). Part
of this section is dedicated to Alport syndrome.
Sections 1 and 2 of the bank are supported by a grant from
Telethon Italian Foundation (project title: “Cell lines
and DNA bank from Rett syndrome and other X-linked mental
The bank offers to researchers different services (see SERVICES
section). In order to take advantage of these services researchers
must contact the bank curators (see CONTACT INFORMATION)
and follow these procedures:
- In order to store or request samples
from the “Rett
syndrome” and “Other” sections researchers
have to fill in the specific forms available on the site
(see FORMS and GUIDELINES). No services will be warranted
without the receipt of the filled in forms.
- In order to store or request samples
from the “X–linked
mental retardation” section researchers must ask
to join the Italian X-linked mental retardation network
(for details see the home page of the section).
No payment is required for bank services, except for shipment
costs. Researchers are asked to include the name of one of
our researchers and/or to acknowledge the bank in any paper
including results obtained using the bank samples/services.
If the requesting researcher is a Telethon scientist, only
the inclusion of the bank in the acknowledgements will be
The web-site is regularly updated with the insertion of
new available samples.
All samples stored in the bank are stripped of any personal
information and can be identified only through the use of
a code. Access to personal data is restricted to bank curators
and no information will be given to researchers taking advantage
of bank services.