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Neural Plasticity
Volume 2017, Article ID 3192090, 8 pages
https://doi.org/10.1155/2017/3192090
Research Article

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population

1Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28, Fuxing Road, Beijing 100853, China
2Department of Otolaryngology, The General Hospital of the PLA Rocket Force, No. 16, XinWai Da Jie, Beijing 100088, China
3Department of Otorhinolaryngology, Shenzhen Children’s Hospital, No. 7019, Yitian Road, Shenzhen 518026, China
4Department of Otolaryngology, Xi’an Medical College, No. 1, XinWang Road, Wei yang qu, Xi’an 710021, China

Correspondence should be addressed to Pu Dai; moc.anis.piv@103upiad

Received 4 March 2017; Accepted 3 May 2017; Published 13 June 2017

Academic Editor: J. Michael Wyss

Copyright © 2017 Xue Gao et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Mutations in the TMPRSS3 (transmembrane protease, serine 3) gene cause prelingual (DFNB10) or postlingual (DFNB8) deafness. In our previous study, three pathogenic mutations in TMPRSS3 were identified in one Chinese family. To evaluate the importance of TMPRSS3 mutations in recessive deafness among the Chinese, we screened 150 autosomal recessive nonsyndromic hearing loss (ARNSHL) families and identified 6 that carried seven causative TMPRSS3 mutations, including five novel mutations (c.809T>A, c.1151T>G, c.1204G>A, c.1244T>C, and c.1250G>A) and two previously reported mutations (c.323-6G>A and c.916G>A). Each of the five novel mutations was classified as severe, by both age of onset and severity of hearing loss. Together with our previous study, six families were found to share one pathogenic mutation (c.916G>A, p.Ala306Thr). To determine whether this mutation arose from a common ancestor, we analyzed six short tandem repeat (STR) markers spanning the TMPRSS3 gene. In four families, we observed linkage disequilibrium between p.Ala306Thr and STR markers. Our results indicate that mutations in TMPRSS3 account for about 4.6% (7/151) of Chinese ARNSHL cases lacking mutations in SLC26A4 or GJB2 and that the recurrent TMPRSS3 mutation p.Ala306Thr is likely to be a founder mutation.