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

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

Hum Genome Var. 2017;4:17027

Authors: Chen D, Zhao N, Wang J, Li Z, Wu C, Fu J, Xiao H

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.

PMID: 28690861 [PubMed – in process]

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