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Clinical Group

Scientific Journal of Genetics and Gene Therapy



Abstract Open Access
Research Article PTZAID: SJGGT-2-109

Identification of Novel TMC1 Compound Heterozygous Mutations Related to Autosomal Recessive Hearing Loss by Targeted Capture Sequencing

Xue Gao, Sha-Sha Huang, Yu Su, Jin-Cao Xu and Pu Dai*

Mutations in the transmembrane channel-like gene1 (TMC1) are known to cause autosomal dominant and recessive forms of nonsyndromic hearing loss DFNA36 and vDFNB7/11, respectively. Here, we characterized a 5-year old girl with severe sensorineural hearing loss. By combining targeted capture of 140 known deafness genes, next-generation sequencing and bioinformatic analysis, we identified two compound heterozygous mutations TMC1 c.1333C>T (p.R445C) and c.1765A>G (p.M589V) as the disease-causing mutations. Our results indicated that TMC1 c.1333C>T (p.R445C) and c.1765A>G (p.M589V) lead to hearing loss in this family and highlight the power of combining deafness gene capture and next generation sequencing for identification of defective genes in sporadic cases with hearing loss. This approach will facilitate identification of the mutation spectrum of all known deaf genes.

Published on: Jul 8, 2016 Pages: 13-16

Full Text PDF Full Text HTML DOI: 10.17352/sjggt.000009