Communicated by Nobuyoshi Shimizu
Rett networked database: An integrated clinical and genetic network of rett syndrome databases†
Article first published online: 13 APR 2012
© 2012 Wiley Periodicals, Inc.
Volume 33, Issue 7, pages 1031–1036, July 2012
How to Cite
Grillo, E., Villard, L., Clarke, A., Ben Zeev, B., Pineda, M., Bahi-Buisson, N., Hryniewiecka-Jaworska, A., Bienvenu, T., Armstrong, J., Roche-Martínez, A., Mari, F., Veneselli, E., Russo, S., Vignoli, A., Pini, G., Djuric, M., Bisgaard, A.-M., Mejaški Bošnjak, V., Polgár, N., Cogliati, F., Ravn, K., Pintaudi, M., Melegh, B., Craiu, D., Djukic, A. and Renieri, A. (2012), Rett networked database: An integrated clinical and genetic network of rett syndrome databases. Hum. Mutat., 33: 1031–1036. doi: 10.1002/humu.22072
- Issue published online: 5 JUN 2012
- Article first published online: 13 APR 2012
- Accepted manuscript online: 13 MAR 2012 02:48PM EST
- Manuscript Accepted: 24 FEB 2012
- Manuscript Received: 3 AUG 2011
- Rett Networked Database;
- Rett syndrome;
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. Hum Mutat 33:1031–1036, 2012. © 2012 Wiley Periodicals, Inc.