RettBASEIntroducing RettBASE: The IRSF MECP2 Variation Database
Following the discovery that mutations in MECP2 are found in most individuals with Rett syndrome, there was a flurry of papers reporting mutations and attempting to draw phenotype-genotype correlations.
However, with time the number of MECP2 mutation reports has decreased, presumably because it has become increasingly difficult to publish reports of MECP2 mutations unless there is something novel about the findings. This would hamper efforts to obtain true prevalence figures for various mutations. Equally important, there would be no complete resource listing all known benign polymorphisms.
To overcome these concerns, we have established a web-based database, called RettBASE, which aims to provide a list of all published MECP2 gene variations (including polymorphisms), but in addition has the facility whereby unpublished data can be submitted and made available to all researchers.
A unique and important feature of our database is that data relevant to each individual with a MECP2 mutation is entered as a separate entry, ensuring that maximum information can be gained for each individual with the mutation. For instance, the p.Thr158Met mutation is one of the most common mutations causing Rett syndrome. If provided with the information, our database will record every individual known to have this mutation, give them a unique identifier number, and record information relating to that individual, thereby allowing sophisticated interrogation of the database relating to this mutation.
The database is in a web based format, and is freely available to all interested individuals, including clinicians, researchers, and the general community. It has a graphical interface, and has limited the amount of graphics (particularly animated graphics) that can slow down the loading time of the web pages.
It is possible for researchers, diagnostic laboratories and clinicians to submit mutation data electronically online via secure means, or by using a Word or PDF form that can be downloaded from the website. New data submissions will be scrutinised for accuracy and uploaded into RettBASE. Contributors will be duly acknowledged by indicating their name against the mutation data submitted to the database. In this way if a clinician or researcher wishes to compare notes on a mutation of interest, they will know whom to contact.
The database will be searchable, and data available for searching includes:
- mutation data for each individual; including the change in the DNA code and the amino acid sequence.
- Phenotype data; minimal clinical data relating to the category of Rett syndrome or the clinical presentation if the subject does not have Rett syndrome.
- X-chromosome inactivation results where available.
- the GenBank sequences for the MECP2 gene, and the SWISS-PROT amino acid sequence
- links to other relevant sites including Pubmed, OMIM, and parent support groups
- a list of submitters
- a mutation map, that will be regularly updated
Apart from being able to perform a simple "look-up" for mutations and polymorphisms, RettBASE has had the innovation of a Boolean search engine for all the data available to visitors to the site, allowing a fairly sophisticated interrogation of the data. We believe this will be of particular interest to researchers.
To "value add" to RettBASE, we have included hotlinks to a number of sites that could be of value and interest to researchers and clinicians and to the families of patients with MECP2 mutations. These links will be expanded as new relevant links are brought to our attention.
We are very grateful for the financial support provided by the International Rett Syndrome Association, without which it would not have been possible to develop and maintain this resource for clinicians, researchers and the families of girls and women with Rett syndrome. We are also indebted to the Rett Syndrome Australian Research Fund, which has also provided us with financial support.
We would invite comments from users. Please visit our website at: http://mecp2.chw.edu.au
Head, NSW Centre for Rett Syndrome Research,