title: Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
abstract: Rett syndrome (RTT) is a neurodevelopmental disorder with one principal phenotype and several distinct, atypical variants (Zappella, early seizure onset and congenital variants). Mutations in MECP2 are found in most cases of classic RTT but at least two additional genes, CDKL5 and FOXG1, can underlie some (usually variant) cases. There is only limited correlation between genotype and phenotype. The Rett Networked Database (http://www.rettdatabasenetwork.org/) has been established to share clinical and genetic information. Through an "adaptor" process of data harmonization, a set of 293 clinical items and 16 genetic items was generated; 62 clinical and 7 genetic items constitute the core dataset; 23 clinical items contain longitudinal information. The database contains information on 1838 patients from 11 countries (December 2011), with or without mutations in known genes. These numbers can expand indefinitely. Data are entered by a clinician in each center who supervises accuracy. This network was constructed to make available pooled international data for the study of RTT natural history and genotype-phenotype correlation and to indicate the proportion of patients with specific clinical features and mutations. We expect that the network will serve for the recruitment of patients into clinical trials and for developing quality measures to drive up standards of medical management.
authors.affiliation: Medical Genetics, Department of Biotechnology, University of Siena, Viale Bracci 2, Siena, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Grillo
authors.forename: Laurent
authors.initials: L
authors.lastname: Villard
authors.forename: Angus
authors.initials: A
authors.lastname: Clarke
authors.forename: Bruria
authors.initials: B
authors.lastname: Ben Zeev
authors.forename: Mercedes
authors.initials: M
authors.lastname: Pineda
authors.forename: Nadia
authors.initials: N
authors.lastname: Bahi-Buisson
authors.forename: Anna
authors.initials: A
authors.lastname: Hryniewiecka-Jaworska
authors.forename: Thierry
authors.initials: T
authors.lastname: Bienvenu
authors.forename: Judith
authors.initials: J
authors.lastname: Armstrong
authors.forename: Ana
authors.initials: A
authors.lastname: Roche-Martinez
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.forename: Edvige
authors.initials: E
authors.lastname: Veneselli
authors.forename: Silvia
authors.initials: S
authors.lastname: Russo
authors.forename: Aglaia
authors.initials: A
authors.lastname: Vignoli
authors.forename: Giorgio
authors.initials: G
authors.lastname: Pini
authors.forename: Milena
authors.initials: M
authors.lastname: Djuric
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Bisgaard
authors.forename: Vlatka
authors.initials: V
authors.lastname: Mejaški Bošnjak
authors.forename: Noémi
authors.initials: N
authors.lastname: Polgár
authors.forename: Francesca
authors.initials: F
authors.lastname: Cogliati
authors.forename: Kirstine
authors.initials: K
authors.lastname: Ravn
authors.forename: Maria
authors.initials: M
authors.lastname: Pintaudi
authors.forename: Béla
authors.initials: B
authors.lastname: Melegh
authors.forename: Dana
authors.initials: D
authors.lastname: Craiu
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Djukic
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
mesh_terms: D030541:Databases, Genetic; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D009154:Mutation; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2