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University of Edinburgh Mutation Database

MeCP2.org.uk is the new, improved and interactive version of the mutation frequency and symptoms databases originally established by Dr Brian Hendrich and Skirmantas Kriaucionis at the University of Edinburgh. The aim of MeCP2.org.uk is to collate and display mutation and symptom information from Rett Syndrome patients to allow the analysis of how symptoms correlate with MECP2 mutation status.

We invite all parents of Rett Syndrome patients with MECP2 mutations who wish to support ongoing research efforts to submit symptom information directly to our database via our new online questionnaire. Parents who have filled out a questionnaire in the past are urged to register online and resubmit updated information. Please visit MeCP2.org.uk for further information!

A second mutation database exists, the RettBASE. Data for this database must be submitted by clinicians. We advise parents to encourage their child's clinicians to visit http://mecp2.chw.edu.au/ for data submission.