期刊
HUMAN MUTATION
卷 33, 期 7, 页码 1031-1036出版社
WILEY-BLACKWELL
DOI: 10.1002/humu.22072
关键词
Rett Networked Database; Rett syndrome; MECP2; CDKL5; FOXG1
资金
- Telethon [GTB07001C]
- RettSearch
- E-RARE EuroRett network
- Association Francaise du Syndrome de Rett
- Catalan Rett Association
- Associazione Italiana Rett
- Rett UK
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 () 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 genotypephenotype 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. Hum Mutat 33:10311036, 2012. (c) 2012 Wiley Periodicals, Inc.
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