A novel MED12 mutation associated with non-specific X-linked intellectual disability

The mediator complex subunit 12 gene (MED12) is responsible for an X-linked recessive intellectual disability syndrome that is characterized by dysmorphic features such as a long, narrow face and blepharophimosis, which is now recognized as an MED12-related syndrome. We identified a novel non-synony...

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Detalles Bibliográficos
Autores principales: Yamamoto, Toshiyuki, Shimojima, Keiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785543/
https://www.ncbi.nlm.nih.gov/pubmed/27081531
http://dx.doi.org/10.1038/hgv.2015.18
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author Yamamoto, Toshiyuki
Shimojima, Keiko
author_facet Yamamoto, Toshiyuki
Shimojima, Keiko
author_sort Yamamoto, Toshiyuki
collection PubMed
description The mediator complex subunit 12 gene (MED12) is responsible for an X-linked recessive intellectual disability syndrome that is characterized by dysmorphic features such as a long, narrow face and blepharophimosis, which is now recognized as an MED12-related syndrome. We identified a novel non-synonymous single-nucleotide variant, p.Ile1023Val, in a male patient with non-specific X-linked intellectual disability (XLID). Our results, together with the existence of similar reports, suggest a relationship between MED12 variants and XLID.
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spelling pubmed-47855432016-04-14 A novel MED12 mutation associated with non-specific X-linked intellectual disability Yamamoto, Toshiyuki Shimojima, Keiko Hum Genome Var Data Report The mediator complex subunit 12 gene (MED12) is responsible for an X-linked recessive intellectual disability syndrome that is characterized by dysmorphic features such as a long, narrow face and blepharophimosis, which is now recognized as an MED12-related syndrome. We identified a novel non-synonymous single-nucleotide variant, p.Ile1023Val, in a male patient with non-specific X-linked intellectual disability (XLID). Our results, together with the existence of similar reports, suggest a relationship between MED12 variants and XLID. Nature Publishing Group 2015-06-18 /pmc/articles/PMC4785543/ /pubmed/27081531 http://dx.doi.org/10.1038/hgv.2015.18 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if thematerial is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Yamamoto, Toshiyuki
Shimojima, Keiko
A novel MED12 mutation associated with non-specific X-linked intellectual disability
title A novel MED12 mutation associated with non-specific X-linked intellectual disability
title_full A novel MED12 mutation associated with non-specific X-linked intellectual disability
title_fullStr A novel MED12 mutation associated with non-specific X-linked intellectual disability
title_full_unstemmed A novel MED12 mutation associated with non-specific X-linked intellectual disability
title_short A novel MED12 mutation associated with non-specific X-linked intellectual disability
title_sort novel med12 mutation associated with non-specific x-linked intellectual disability
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785543/
https://www.ncbi.nlm.nih.gov/pubmed/27081531
http://dx.doi.org/10.1038/hgv.2015.18
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