2026-05-04T15:00:41Z https://www.peertechzpublications.org/oai-pmh

oai:www.peertechzpublications.org:10.17352/sjggt.000009 2016-07-08 PTZ.SJGGT:VOL2

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 XuPu Dai<p>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&gt;T (p.R445C) and c.1765A&gt;G (p.M589V) as the disease-causing mutations. Our results indicated that TMC1 c.1333C&gt;T (p.R445C) and c.1765A&gt;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.</p> Scientific Journal of Genetics and Gene Therapy - Peertechz Publications 2016-07-08 Research Article https://doi.org/10.17352/sjggt.000009 en Copyright © Xue Gao et al.