Italian Rett database and biobank.
Rett syndrome is the second most common cause of severe mental retardation in females, with an incidence of approximately 1 out of 10,000 live female births. In addition to the classic form, a number of Rett variants have been described. MECP2 gene mutations are responsible for about 90% of classic cases and for a lower percentage of variant cases. Recently, CDKL5 mutations have been identified in the early onset seizures variant and other atypical Rett patients. While the high percentage of MECP2 mutations in classic patients supports the hypothesis of a single disease gene, the low frequency of mutated variant cases suggests genetic heterogeneity. Since 1998, we have performed clinical evaluation and molecular analysis of a large number of Italian Rett patients. The Italian Rett Syndrome (RTT) database has been developed to share data and samples of our RTT collection with the scientific community (http://www.biobank.unisi.it). This is the first RTT database that has been connected with a biobank. It allows the user to immediately visualize the list of available RTT samples and, using the "Search by" tool, to rapidly select those with specific clinical and molecular features. By contacting bank curators, users can request the samples of interest for their studies. This database encourages collaboration projects with clinicians and researchers from around the world and provides important resources that will help to better define the pathogenic mechanisms underlying Rett syndrome.
Sampieri
Katia
K
Medical Genetics Unit, Department of Molecular Biology, University of Siena, Siena, Italy.
Meloni
Ilaria
I
Scala
Elisa
E
Ariani
Francesca
F
Caselli
Rossella
R
Pescucci
Chiara
C
Longo
Ilaria
I
Artuso
Rosangela
R
Bruttini
Mirella
M
Mencarelli
Maria Antonietta
MA
Speciale
Caterina
C
Causarano
Vincenza
V
Hayek
Giuseppe
G
Zappella
Michele
M
Renieri
Alessandra
A
Mari
Francesca
F
D019992:Databases as Topic; D030561:Databases, Nucleic Acid; D005260:Female; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D015518:Rett Syndrome / Q000235:genetics*
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human