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

Elisa Grillo, Laurent Villard, Angus Clarke, Bruria Ben Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Anna Hryniewiecka-Jaworska, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne Marie Bisgaard, Vlatka Mejaški Bošnjak, Noémi Polgár, Francesca CogliatiKirstine Ravn, Maria Pintaudi, Béla Melegh, Dana Craiu, Aleksandra Djukic, Alessandra Renieri

Research output: Contribution to journalArticle

13 Scopus citations

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 () 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.

Original languageEnglish (US)
Pages (from-to)1031-1036
Number of pages6
JournalHuman Mutation
Volume33
Issue number7
DOIs
StatePublished - Jul 2012

Keywords

  • CDKL5
  • FOXG1
  • MECP2
  • Rett Networked Database
  • Rett syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Grillo, E., Villard, L., Clarke, A., Ben Zeev, B., Pineda, M., Bahi-Buisson, N., Hryniewiecka-Jaworska, A., Bienvenu, T., Armstrong, J., Martinez, A. R., Mari, F., Veneselli, E., Russo, S., Vignoli, A., Pini, G., Djuric, M., Bisgaard, A. M., Mejaški Bošnjak, V., Polgár, N., ... Renieri, A. (2012). Rett networked database: An integrated clinical and genetic network of rett syndrome databases. Human Mutation, 33(7), 1031-1036. https://doi.org/10.1002/humu.22072