Article
Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
American journal of medical genetics. Part A - 1 Oct 2015
Gao Xue, Huang Sha-Sha, Yuan Yong-Yi, Wang Guo-Jian, Xu Jin-Cao, Ji Yu-Bin, Han Ming-Yu, Yu Fei, Kang Dong-Yang, Lin Xi, Dai Pu
Abstract excerpt
Hereditary nonsyndromic hearing loss is extremely heterogeneous. Mutations in the transmembrane channel-like gene1 (TMC1) are known to cause autosomal dominant and recessive forms of nonsyndromic hearing loss linked to the loci of DFNA36 and DFNB7/11, respectively. We characterized a six-generation Chinese family (5315) with progressive, postlingual autosomal dominant nonsyndromic hearing loss (ADNSHL). By...
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