A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing LossReport as inadecuate




A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss - Download this document for free, or read online. Document in PDF available to download.

TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness designated DFNA or as the autosomal-recessive version. The α-tectorin protein, which is encoded by the TECTA gene, is one of the major components of the tectorial membrane in the inner ear. Using targeted DNA capture and massively parallel sequencing MPS, we screened 42 genes known to be responsible for human deafness in a Chinese family Family 3187 in which common deafness mutations had been ruled out as the cause, and identified a novel mutation, c.257–262CCTTTC>GCT p. Ser86Cys; p. Pro88del in exon 3 of the TECTA gene in the proband and his extended family. All affected individuals in this family had moderate down-sloping hearing loss across all frequencies. To our knowledge, this is the second TECTA mutation identified in Chinese population. This study demonstrates that targeted genomic capture, MPS, and barcode technology might broaden the availability of genetic testing for individuals with undiagnosed DFNA.



Author: Yu Su , Wen-Xue Tang , Xue Gao , Fei Yu, Zhi-Yao Dai, Jian-Dong Zhao, Yu Lu, Fei Ji, Sha-Sha Huang, Yong-Yi Yuan, Ming-Yu Han, Yu

Source: http://plos.srce.hr/



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