Mutation Databases

MeCP2.org.uk

Drs. Brian Hendrich and Skimantas Kriaucionis from the University of Edinburgh, first launched their database in mid 2001. A new and interactive database was unveiled in September of 2003. The goals of the database are aimed at ascertaining whether correlations exist between specific mutations and certain symptoms and how symptoms change over time. They invite all parents of Rett Syndrome children with MECP2 mutations to submit symptom information directly to their database via a new online questionnaire at: www.MeCP2.org.uk. Please note that anyone wishing to submit information will first have to register.

Parents who have previously submitted a questionnaire to the original database (the old website was homepages.ed.ac.uk/skirmis) will also need to register and submit updated information. All parents are encouraged to submit a questionnaire once a year. This will allow the investigators to keep track of your child's symptoms over time.

InterRett - the IRSA Rett Phenotype Database
www.ichr.uwa.edu.au/rett/irsa

This project collects information about the features of Rett syndrome from parents and clinicians. These details are then collated to form an online searchable database.

To participate email rett@ichr.uwa.edu.au. You will be sent details about entering your information online.

RettBASE - IRSA MECP2 Variation Database
mecp2.chw.edu.au

This database has been constructed by merging mutation and polymorphism data from the published literature pertaining to Rett syndrome and related clinical disorders, and by incorporating unpublished mutation and polymorphism data that have been submitted directly to us. Information can only be submitted by clinicians or the testing labs. Please encourage your child's doctor to contribute to this database.