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Rett networked database: An integrated clinical and genetic network of rett syndrome databases

Grillo, Elisa, Villard, Laurent, Clarke, Angus John, Ben Zeev, Bruria, Pineda, Mercedes, Bahi-Buisson, Nadia, Hryniewiecka-Jaworska, Anna, Bienvenu, Thierry, Armstrong, Judith, Martinez, Ana Roche, Mari, Francesca, Veneselli, Edvige, Russo, Silvia, Vignoli, Aglaia, Pini, Giorgio, Djuric, Milena, Bisgaard, Anne-Marie, Mejaski Bosnjak, Vlatka, Polgár, Noémi, Cogliati, Francesca, Ravn, Kirstine, Pintaudi, Maria, Melegh, Béla, Craiu, Dana, Djukic, Aleksandra and Renieri, Alessandra 2012. Rett networked database: An integrated clinical and genetic network of rett syndrome databases. Human Mutation 33 (7) , pp. 1031-1036. 10.1002/humu.22072

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
Uncontrolled Keywords: Rett Networked Database; Rett syndrome; MECP2; CDKL5; FOXG1
Publisher: Wiley-Blackwell
ISSN: 1059-7794
Last Modified: 04 Jun 2017 04:35
URI: http://orca-mwe.cf.ac.uk/id/eprint/41419

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