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

Dezhong Chen; Na Zhao; Jing Wang; Zhuoyu Li; Changxin Wu; Jie Fu; Han Xiao

doi:10.1038/hgv.2017.27

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

Hum Genome Var. 2017 Jun 29:4:17027. doi: 10.1038/hgv.2017.27. eCollection 2017.

Authors

Dezhong Chen¹, Na Zhao², Jing Wang², Zhuoyu Li², Changxin Wu², Jie Fu¹, Han Xiao²

Affiliations

¹ Inner Mongolia Molidawa Dawoerzu Zizhiqi People's Hospital, Hulunbuir, China.
² Institute of Biomedical Sciences, Shanxi University, Taiyuan, China.

Abstract

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.