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Article

Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes.

Molecular medicine reports - 1 Jul 2016

Li Yunlong, Zhu Baosheng

Abstract excerpt

Mutations in the SLC26A4 gene have been shown to cause a type of deafness referred to as large vestibular aqueduct syndrome (LVAS), whereas mutations in the GJB3 gene have been associated with nonsyndromic deafness. However, the clinical phenotypes of these mutations vary and remain to be fully elucidated. The present study performed genetic analysis of a Chinese family, in which the child was deaf and the...

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Identifiers

PMID: 27176802
DOI: 10.3892/mmr.2016.5280

Genes

GJB3

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