Note : We are revamping website of RettBASE for better access and display of mutation data. Although maximum care is taken to prevent disruption of data some links make be broken during this process. we apologize for any inconvenience caused.

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 We also welcome queries regarding mutation nomenclature on any variants listed in our databases or for any unpublished MECP2, CDKL5 or FOXG1 variants.

Please use the current page or http://mecp2.chw.edu.au/ as your bookmark. We appreciate any feedback or suggestions regarding the databases, as well as any changes for the 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.

In the early years after the identification of CDKL5 as a disease gene, patients were often classified as having a more severe form of Rett syndrome, the so-called Hanefeld variant. However, as more individuals with pathogenic CDKL5 variants were identified, it was recognised that individuals with CDKL5 mutations have a clinical picture that is very distinct from Rett syndrome, and most agree that it should be considered to be a distinct clinical entity,widely recognised as the CDKL5 Deficiency Disorder (see: PMID 22872100, 27528505 and 30928302)

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
Variant search
Proband search
Full listing for FOXG1:
Table of variants
Table of probands

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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
References for FOXG1 mutations

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How to cite RettBASE


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

Krishnaraj R, Ho G, Christodoulou J. 2017. RettBASE: Rett syndrome database update. Hum Mutat 2017;00:1-10. Human mutation Pubmed: 28544139

or

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@mcri.edu.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
Rahul Krishnaraj
Rahul.krishnaraj@health.nsw.gov.au
Western Sydney Genetics Program
Children's Hospital Westmead
Westmead NSW 2145
Australia

We thank our previous curators Gladys Ho, 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.

Disclaimer

RettBASE is a research database intended to provide high quality data for research community, physicians and the general community, based on information shared with us from contributors or available through medical literature. Variant classification and reclassification is a dynamic process and discrepancies can occur. We do our best to validate the information shared in RettBASE, but this information is not intended to be taken as a sole diagnostic or medical decision-making yardstick. We recommend that you interpret these data in the light of the most recent information available through the most current literature or other data sources.

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