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Article

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.

Neural plasticity - 1 Jan 2017

Gao Xue, Huang Sha-Sha, Yuan Yong-Yi, Xu Jin-Cao, Gu Ping, Bai Dan, Kang Dong-Yang, Han Ming-Yu, Wang Guo-Jian, Zhang Mei-Guang, Li Jia, Dai Pu

Abstract excerpt

Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Mutations in the TMPRSS3 (transmembrane protease, serine 3) gene cause prelingual (DFNB10) or postlingual (DFNB8) deafness. In our previous study, three pathogenic mutations in TMPRSS3 were identified in one Chinese family. To evaluate the importance of TMPRSS3 mutations in recessive deafness among the Chinese, we screened 150...

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Source

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Identifiers

PMID: 28695016
DOI: 10.1155/2017/3192090
PMCID: PMC5485344

Genes

TMPRSS3
GJB2

Variants

Provenance

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