Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population
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...
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| Format: | Article |
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Wiley
2017-01-01
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| Series: | Neural Plasticity |
| Online Access: | http://dx.doi.org/10.1155/2017/3192090 |
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| author | Xue Gao Sha-Sha Huang Yong-Yi Yuan Jin-Cao Xu Ping Gu Dan Bai Dong-Yang Kang Ming-Yu Han Guo-Jian Wang Mei-Guang Zhang Jia Li Pu Dai |
| author_facet | Xue Gao Sha-Sha Huang Yong-Yi Yuan Jin-Cao Xu Ping Gu Dan Bai Dong-Yang Kang Ming-Yu Han Guo-Jian Wang Mei-Guang Zhang Jia Li Pu Dai |
| author_sort | Xue Gao |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a871be126f0143e49418a14d2926ac3a |
| institution | Kabale University |
| issn | 2090-5904 1687-5443 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Neural Plasticity |
| spelling | doaj-art-a871be126f0143e49418a14d2926ac3a2025-02-03T01:02:00ZengWileyNeural Plasticity2090-59041687-54432017-01-01201710.1155/2017/31920903192090Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese PopulationXue Gao0Sha-Sha Huang1Yong-Yi Yuan2Jin-Cao Xu3Ping Gu4Dan Bai5Dong-Yang Kang6Ming-Yu Han7Guo-Jian Wang8Mei-Guang Zhang9Jia Li10Pu Dai11Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28, Fuxing Road, Beijing 100853, ChinaDepartment of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28, Fuxing Road, Beijing 100853, ChinaDepartment of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28, Fuxing Road, Beijing 100853, ChinaDepartment of Otolaryngology, The General Hospital of the PLA Rocket Force, No. 16, XinWai Da Jie, Beijing 100088, ChinaDepartment of Otorhinolaryngology, Shenzhen Children’s Hospital, No. 7019, Yitian Road, Shenzhen 518026, ChinaDepartment of Otolaryngology, Xi’an Medical College, No. 1, XinWang Road, Wei yang qu, Xi’an 710021, ChinaDepartment of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28, Fuxing Road, Beijing 100853, ChinaDepartment of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28, Fuxing Road, Beijing 100853, ChinaDepartment of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28, Fuxing Road, Beijing 100853, ChinaDepartment of Otolaryngology, The General Hospital of the PLA Rocket Force, No. 16, XinWai Da Jie, Beijing 100088, ChinaDepartment of Otolaryngology, The General Hospital of the PLA Rocket Force, No. 16, XinWai Da Jie, Beijing 100088, ChinaDepartment of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28, Fuxing Road, Beijing 100853, ChinaHereditary 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.http://dx.doi.org/10.1155/2017/3192090 |
| spellingShingle | Xue Gao Sha-Sha Huang Yong-Yi Yuan Jin-Cao Xu Ping Gu Dan Bai Dong-Yang Kang Ming-Yu Han Guo-Jian Wang Mei-Guang Zhang Jia Li Pu Dai Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population Neural Plasticity |
| title | Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population |
| title_full | Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population |
| title_fullStr | Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population |
| title_full_unstemmed | Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population |
| title_short | Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population |
| title_sort | identification of tmprss3 as a significant contributor to autosomal recessive hearing loss in the chinese population |
| url | http://dx.doi.org/10.1155/2017/3192090 |
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