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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Detalles Bibliográficos
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
Descripción
Sumario: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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