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MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases
Rett syndrome (RTT) is a monogenic rare disorder that causes severe neurological problems. In most cases, it results from a loss‐of‐function mutation in the gene encoding methyl‐CPG‐binding protein 2 (MECP2). Currently, about 900 unique MECP2 variations (benign and pathogenic) have been identified a...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033003/ https://www.ncbi.nlm.nih.gov/pubmed/29704307 http://dx.doi.org/10.1002/humu.23542 |
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author | Townend, Gillian S. Ehrhart, Friederike van Kranen, Henk J. Wilkinson, Mark Jacobsen, Annika Roos, Marco Willighagen, Egon L. van Enckevort, David Evelo, Chris T. Curfs, Leopold M. G. |
author_facet | Townend, Gillian S. Ehrhart, Friederike van Kranen, Henk J. Wilkinson, Mark Jacobsen, Annika Roos, Marco Willighagen, Egon L. van Enckevort, David Evelo, Chris T. Curfs, Leopold M. G. |
author_sort | Townend, Gillian S. |
collection | PubMed |
description | Rett syndrome (RTT) is a monogenic rare disorder that causes severe neurological problems. In most cases, it results from a loss‐of‐function mutation in the gene encoding methyl‐CPG‐binding protein 2 (MECP2). Currently, about 900 unique MECP2 variations (benign and pathogenic) have been identified and it is suspected that the different mutations contribute to different levels of disease severity. For researchers and clinicians, it is important that genotype–phenotype information is available to identify disease‐causing mutations for diagnosis, to aid in clinical management of the disorder, and to provide counseling for parents. In this study, 13 genotype–phenotype databases were surveyed for their general functionality and availability of RTT‐specific MECP2 variation data. For each database, we investigated findability and interoperability alongside practical user functionality, and type and amount of genetic and phenotype data. The main conclusions are that, as well as being challenging to find these databases and specific MECP2 variants held within, interoperability is as yet poorly developed and requires effort to search across databases. Nevertheless, we found several thousand online database entries for MECP2 variations and their associated phenotypes, diagnosis, or predicted variant effects, which is a good starting point for researchers and clinicians who want to provide, annotate, and use the data. |
format | Online Article Text |
id | pubmed-6033003 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-60330032018-07-12 MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases Townend, Gillian S. Ehrhart, Friederike van Kranen, Henk J. Wilkinson, Mark Jacobsen, Annika Roos, Marco Willighagen, Egon L. van Enckevort, David Evelo, Chris T. Curfs, Leopold M. G. Hum Mutat Databases Rett syndrome (RTT) is a monogenic rare disorder that causes severe neurological problems. In most cases, it results from a loss‐of‐function mutation in the gene encoding methyl‐CPG‐binding protein 2 (MECP2). Currently, about 900 unique MECP2 variations (benign and pathogenic) have been identified and it is suspected that the different mutations contribute to different levels of disease severity. For researchers and clinicians, it is important that genotype–phenotype information is available to identify disease‐causing mutations for diagnosis, to aid in clinical management of the disorder, and to provide counseling for parents. In this study, 13 genotype–phenotype databases were surveyed for their general functionality and availability of RTT‐specific MECP2 variation data. For each database, we investigated findability and interoperability alongside practical user functionality, and type and amount of genetic and phenotype data. The main conclusions are that, as well as being challenging to find these databases and specific MECP2 variants held within, interoperability is as yet poorly developed and requires effort to search across databases. Nevertheless, we found several thousand online database entries for MECP2 variations and their associated phenotypes, diagnosis, or predicted variant effects, which is a good starting point for researchers and clinicians who want to provide, annotate, and use the data. John Wiley and Sons Inc. 2018-05-21 2018-07 /pmc/articles/PMC6033003/ /pubmed/29704307 http://dx.doi.org/10.1002/humu.23542 Text en © 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Databases Townend, Gillian S. Ehrhart, Friederike van Kranen, Henk J. Wilkinson, Mark Jacobsen, Annika Roos, Marco Willighagen, Egon L. van Enckevort, David Evelo, Chris T. Curfs, Leopold M. G. MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases |
title |
MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases |
title_full |
MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases |
title_fullStr |
MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases |
title_full_unstemmed |
MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases |
title_short |
MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases |
title_sort | mecp2 variation in rett syndrome—an overview of current coverage of genetic and phenotype data within existing databases |
topic | Databases |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033003/ https://www.ncbi.nlm.nih.gov/pubmed/29704307 http://dx.doi.org/10.1002/humu.23542 |
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