c.464A>G variation in the GJB2 gene is detected in a Han Chinese family

Gang-Hua Zhu; Hong-Ying Shu; Hai-Yan Zhou; Yong Chen; Fei Zhou; Bin Ni; Wanqin Xie

doi:10.1002/ccr3.1184

c.464A>G variation in the GJB2 gene is detected in a Han Chinese family

Clin Case Rep. 2017 Sep 15;5(11):1785-1788. doi: 10.1002/ccr3.1184. eCollection 2017 Nov.

Authors

Gang-Hua Zhu¹, Hong-Ying Shu², Hai-Yan Zhou², Yong Chen², Fei Zhou³, Bin Ni², Wanqin Xie²

Affiliations

¹ Department of Otolaryngology-Head and Neck Surgery The Second Xiangya Hospital Central South University Changsha Hunan 410011 China.
² Key laboratory of Genetics and Birth Health of Hunan Province Family Planning Research Institute of Hunan Province Changsha Hunan 410126 China.
³ Department of Otolaryngology The Third Hospital of Changsha Changsha Hunan 410015 China.

Abstract

We report two heterozygous carriers of c.464A>G variation in the GJB2 gene in a Chinese pedigree. The proband with hearing loss most likely inherited the c.464A>G variation from his mother who also carries heterozygous c.79G>A variation and has normal hearing. The pathological significance of c.464A>G variation remains to be determined.

Keywords: GJB2; hearing loss.

Publication types

Case Reports