A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss

作者：Su, Yu; Tang, Wen-Xue; Gao, Xue; Yu, Fei; Dai, Zhi-Yao; Zhao, Jian-Dong; Lu, Yu; Ji, Fei; Huang, Sha-Sha; Yuan, Yong-Yi; Han, Ming-Yu; Song, Yue-Shuai; Zhu, Yu-Hua; Kang, Dong-Yang; Han, Dong-Yi^*; Dai, Pu

来源：PLos One, 2014, 9(2): e89240.

DOI：10.1371/journal.pone.0089240

• GENOTYPE-PHENOTYPE CORRELATION
• DUTCH DFNA8/12 FAMILY
• SENSORINEURAL DEAFNESS
• TECTORIAL MEMBRANE
• IMPAIRMENT
• IDENTIFICATION
• EXPRESSION
• DFNB21
• CONFIRMS
• DELETION

TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness (designated DFNA) or as the autosomal-recessive version. The alpha-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.

• 出版日期2014-2-21
• 单位中国人民解放军第二炮兵总医院; 中国人民解放军总医院