Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population
Joint Authors
Gao, Xue
Xu, Jin-Cao
Yuan, Yong-Yi
Bai, Dan
Huang, Sha-Sha
Wang, Guo-Jian
Kang, Dong-Yang
Zhang, Mei-Guang
Dai, Pu
Gu, Ping
Han, Ming-Yu
Li, Jia
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-06-13
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Gao, Xue& Huang, Sha-Sha& Yuan, Yong-Yi& Xu, Jin-Cao& Gu, Ping& Bai, Dan…[et al.]. 2017. Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population. Neural Plasticity،Vol. 2017, no. 2017, pp.1-8.
https://search.emarefa.net/detail/BIM-1192952
Modern Language Association (MLA)
Gao, Xue…[et al.]. Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population. Neural Plasticity No. 2017 (2017), pp.1-8.
https://search.emarefa.net/detail/BIM-1192952
American Medical Association (AMA)
Gao, Xue& Huang, Sha-Sha& Yuan, Yong-Yi& Xu, Jin-Cao& Gu, Ping& Bai, Dan…[et al.]. Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population. Neural Plasticity. 2017. Vol. 2017, no. 2017, pp.1-8.
https://search.emarefa.net/detail/BIM-1192952
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1192952