title: Italian Rett database and biobank.
abstract: 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.
authors.affiliation: Medical Genetics Unit, Department of Molecular Biology, University of Siena, Siena, Italy.
authors.forename: Katia
authors.initials: K
authors.lastname: Sampieri
authors.forename: Ilaria
authors.initials: I
authors.lastname: Meloni
authors.forename: Elisa
authors.initials: E
authors.lastname: Scala
authors.forename: Francesca
authors.initials: F
authors.lastname: Ariani
authors.forename: Rossella
authors.initials: R
authors.lastname: Caselli
authors.forename: Chiara
authors.initials: C
authors.lastname: Pescucci
authors.forename: Ilaria
authors.initials: I
authors.lastname: Longo
authors.forename: Rosangela
authors.initials: R
authors.lastname: Artuso
authors.forename: Mirella
authors.initials: M
authors.lastname: Bruttini
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Mencarelli
authors.forename: Caterina
authors.initials: C
authors.lastname: Speciale
authors.forename: Vincenza
authors.initials: V
authors.lastname: Causarano
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Hayek
authors.forename: Michele
authors.initials: M
authors.lastname: Zappella
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
mesh_terms: 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*
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human