Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.

Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.

We report the genetic analysis of autosomal dominant, nonsyndromic, progressive sensorineural hearing loss in a Chinese family. Using whole exome sequencing, we identified a missense variant (c.130C>T, p.R44C) in the MCM2 gene, which has a pro-apoptosis effect and is involved in the initiation of...

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Bibliographic Details
Main Authors:	Juanjuan Gao, Qi Wang, Cheng Dong, Siqi Chen, Yu Qi, Yuhe Liu
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2015-01-01
Series:	PLoS ONE
Online Access:	http://europepmc.org/articles/PMC4510057?pdf=render

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