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.