Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family

Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to...

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Autores principales: Chen, Dezhong, Zhao, Na, Wang, Jing, Li, Zhuoyu, Wu, Changxin, Fu, Jie, Xiao, Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5489998/
https://www.ncbi.nlm.nih.gov/pubmed/28690861
http://dx.doi.org/10.1038/hgv.2017.27
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author Chen, Dezhong
Zhao, Na
Wang, Jing
Li, Zhuoyu
Wu, Changxin
Fu, Jie
Xiao, Han
author_facet Chen, Dezhong
Zhao, Na
Wang, Jing
Li, Zhuoyu
Wu, Changxin
Fu, Jie
Xiao, Han
author_sort Chen, Dezhong
collection PubMed
description Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and in silico functional prediction methods.
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spelling pubmed-54899982017-07-07 Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family Chen, Dezhong Zhao, Na Wang, Jing Li, Zhuoyu Wu, Changxin Fu, Jie Xiao, Han Hum Genome Var Data Report Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and in silico functional prediction methods. Nature Publishing Group 2017-06-29 /pmc/articles/PMC5489998/ /pubmed/28690861 http://dx.doi.org/10.1038/hgv.2017.27 Text en Copyright © 2017 The Author(s) 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 the material 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
Chen, Dezhong
Zhao, Na
Wang, Jing
Li, Zhuoyu
Wu, Changxin
Fu, Jie
Xiao, Han
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family
title Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family
title_full Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family
title_fullStr Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family
title_full_unstemmed Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family
title_short Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family
title_sort whole-exome sequencing analysis of waardenburg syndrome in a chinese family
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5489998/
https://www.ncbi.nlm.nih.gov/pubmed/28690861
http://dx.doi.org/10.1038/hgv.2017.27
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