Welcome

Welcome to the RettSyndrome.org (formerly the International Rett Syndrome Foundation, IRSF) MECP2 Variation Database (RettBASE), hosted by the Children's Hospital Westmead. Our goal is to gather and curate mutation data related to Rett syndrome, allowing the development of accurate prevalence data for disease-causing mutations, providing a catalog of polymorphisms, and potentially allowing more accurate phenotype-genotype correlations to be drawn. RettBASE encourages input from researchers, clinicians, families of individuals living with Rett syndrome and the general public, in order to enhance our knowledge and understanding of mutations causing Rett syndrome.

Quick navigation

RettBASE is a freely-available resource for mutation and polymorphism data pertaining to Rett syndrome and other related clinical disorders. Mutation information is collected from published literature and from our collaborators who submit data directly to us. All variant information is manually curated before inclusion in the database. Please see links below on how you can contribute to this database. We also welcome queries regarding mutation nomenclature on any variants listed in our databases or for any unpublished MECP2, CDKL5 or FOXG1 variants.

Due to the growing body of mutation data for CDKL5 and FOXG1, we are in the process of separating these variants from the MECP2 data and building search engines more appropriate for these genes. In concert with the database upgrade, we are gradually changing over the look of this website. During the upgrading process, some pages may no longer be available, including your previous bookmarks. We apologise for any inconvenience caused. Please use the current page or http://mecp2.chw.edu.au/ as your bookmark. We appreciate any feedback or suggestions regarding the new databases, as well as any changes for the existing MECP2 search engine. Please inform us of any bugs/broken links encountered.


Mutation databases

Please choose the gene and type of search required from the list below. Currently graphical displays of variants are available for MECP2 variants only. Please note that FOXG1 mutation data are currently incorporated within the MECP2 database until the completion of a FOXG1 database. To view the most up-to-date set of FOXG1 mutation data, please use either forms of the MECP2 search engines and use 'foxg1' (non-case-sensitive) as your search term for nucleotide/amino acid change.

Note regarding nomenclature of MECP2 variants: variants are traditionally called from the e2 isoform (translation starting in exon 2). Unless otherwise specified in the nomenclature, all variants in RettBASE are named according to this convention (reference sequence NM_004992). Nomenclature of mutations in exon 3 and exon 4 will differ by 12 amino acids between the two isoforms (e.g. p.R306C or p.Arg306Cys in isoform e2 is equivalent to p.R318C or p.Arg318Cys in isoform e2). cDNA nomenclature will differ by 36 nucleotides.


MECP2
Simple search
Advanced search
Table of all entries
Graph of all mutations
Summary of
MECP2 mutations:
By frequency
By nucleotide
By amino acid
CDKL5
Variant search
Proband search
Full listing for CDKL5:
Table of variants
Table of probands
FOXG1
List of mutations

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General information


The most commonly-used reference sequences for MECP2, CDKL5 and FOXG1 are listed on our reference sequence page. MeCP2 alignments are no longer available on RettBASE, but we encourage you to visit the links listed on the reference sequence page to find alignment information. Guidelines for mutation nomenclature can be found on the general resources page.

If you're looking for some general background information on Rett syndrome or interested in joining a Rett community, please visit our general resources page for some suggested sites.



Useful Information
Reference sequence information
Deletions causing Rett syndrome + related disorders
General resources
Submitting mutations to RettBASE
Contributors
References for MECP2 mutations
References for CDKL5 mutations

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How to cite RettBASE


Please cite this database (RettBASE: http://mecp2.chw.edu.au/) using:

Christodoulou J, Grimm A, Maher T, Bennetts B. 2003. RettBASE: The IRSA MECP2 Variation Database - A New Mutation Database in Evolution. Hum Mutat 21:466-472. Pubmed: 12673788

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Keeping RettBASE alive!


Please help us by contributing to the content of RettBASE. We welcome any mutation data on MECP2, CDKL5 or FOXG1. Submission forms can be found on our submissions page.

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The people behind RettBASE


RettBASE supervisor
Prof. John Christodoulou
John.Christodoulou@health.nsw.gov.au
Director of Western Sydney Genetics Program
Children's Hospital Westmead
Westmead NSW 2145
Australia

Disciplines of Paediatrics & Child Health and Genetic Medicine
University of Sydney
Sydney NSW 2006
Australia

RettBASE curator
Dr Gladys Ho
Gladys.Ho@health.nsw.gov.au
Western Sydney Genetics Program
Children's Hospital Westmead
Westmead NSW 2145
Australia

We thank our previous curator, Andrew Grimm, as well as Dr Sarah Williamson, Dr Linda Weaving and A/Prof. Bruce Bennetts for their assistance in the curation process.

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Acknowledgements


We thank the Rettsyndrome.org (formerly the International Rett Syndrome Foundation or IRSF) for their generous financial support in the construction and maintenance of this database and website. We also thank the Children's Hospital Westmead for hosting this database and for their technical support.

We would also like to acknowledge the New South Wales Rett Syndrome Association and the Rett Syndrome Australian Research Fund for their generous support of the NSW Rett Syndrome Research Team at the Children's Hospital at Westmead. We are also indebted to our collaborators who have been generous in providing their unpublished data to RettBASE.

The RettBASE database and website were initially designed and constructed by BioLateral. We are very grateful to Professor Charles Scriver for very helpful advice and provision of the PAHdb shell, which was used as the initial template for the RettBASE database.

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