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Article

Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family.

International journal of pediatric otorhinolaryngology - 1 Apr 2014

Huang Aiping, Yuan Yongyi, Duan Naichao, Jiang Xinxia, Wang Baoshan, Liu Yanping, Kang Dongyang, Zhang Xin, Zhu Qingwen, Dai Pu

Abstract excerpt

OBJECTIVE: To assess the molecular etiology of nonsyndromic sensorineural hearing loss (NSHL) in members of an affected Chinese family. METHODS: Common hearing-related genes including gap junction beta 2 (GJB2), SLC26A4, mitochondrial DNA 12S rRNA, GJB3 and GJB6 were examined in a family consisting of a normal hearing father, an NSHL-affected mother, one normal-hearing child and three NSHL-affected children....

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Source

Identifiers

PMID: 24503448
DOI: 10.1016/j.ijporl.2014.01.008

Genes

GJB2
GJB3
GJB6

Variants

Provenance

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