Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family
Background. GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness...
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2020-01-01
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Series: | BioMed Research International |
Online Access: | http://dx.doi.org/10.1155/2020/6370386 |
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doaj-2eaf0efbea1e430893f2c393ead6893f2020-11-25T01:11:22ZengHindawi LimitedBioMed Research International2314-61332314-61412020-01-01202010.1155/2020/63703866370386Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese FamilyShasha Huang0Xue Gao1Yufeng Wang2Dongyang Kang3Xin Zhang4Suyan Yang5Pu Dai6Department of Otolaryngology, PLA General Hospital, Do. 28 Fuxing Road, Beijing 100853, ChinaDepartment of Otolaryngology, PLA Rocket Force Characteristic Medical Center, 16# XinWai Da Jie, Beijing 100088, ChinaDepartment of Hospitalization Management, PLA General Hospital, Do. 28 Fuxing Road, Beijing 100853, ChinaDepartment of Otolaryngology, PLA General Hospital, Do. 28 Fuxing Road, Beijing 100853, ChinaDepartment of Otolaryngology, PLA General Hospital, Do. 28 Fuxing Road, Beijing 100853, ChinaDepartment of Otolaryngology, PLA General Hospital, Do. 28 Fuxing Road, Beijing 100853, ChinaDepartment of Otolaryngology, PLA General Hospital, Do. 28 Fuxing Road, Beijing 100853, ChinaBackground. GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family. Methods. In this study, we examined four generations of a Chinese family (M127) with hearing loss. Temporal CT scan, complete physical examination (including skin and hair), and audiological tests were performed. Targeted next-generation and Sanger sequencing were used to identify pathogenic mutations in affected individuals. Results. All patients exhibited prelingual nonsyndromic sensorineural hearing loss, with severity ranging from moderate to severe. A novel dominant pathogenic variant c.205T > C (p.Phe69Leu) was identified in all patients in this family. Conclusions. c.205T > C (p.Phe69Leu) was identified as a novel dominant pathogenic variant of GJB2 associated with prelingual nonsyndromic sensorineural hearing loss.http://dx.doi.org/10.1155/2020/6370386 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Shasha Huang Xue Gao Yufeng Wang Dongyang Kang Xin Zhang Suyan Yang Pu Dai |
spellingShingle |
Shasha Huang Xue Gao Yufeng Wang Dongyang Kang Xin Zhang Suyan Yang Pu Dai Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family BioMed Research International |
author_facet |
Shasha Huang Xue Gao Yufeng Wang Dongyang Kang Xin Zhang Suyan Yang Pu Dai |
author_sort |
Shasha Huang |
title |
Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family |
title_short |
Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family |
title_full |
Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family |
title_fullStr |
Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family |
title_full_unstemmed |
Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family |
title_sort |
prelingual sensorineural hearing loss caused by a novel gjb2 dominant mutation in a chinese family |
publisher |
Hindawi Limited |
series |
BioMed Research International |
issn |
2314-6133 2314-6141 |
publishDate |
2020-01-01 |
description |
Background. GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family. Methods. In this study, we examined four generations of a Chinese family (M127) with hearing loss. Temporal CT scan, complete physical examination (including skin and hair), and audiological tests were performed. Targeted next-generation and Sanger sequencing were used to identify pathogenic mutations in affected individuals. Results. All patients exhibited prelingual nonsyndromic sensorineural hearing loss, with severity ranging from moderate to severe. A novel dominant pathogenic variant c.205T > C (p.Phe69Leu) was identified in all patients in this family. Conclusions. c.205T > C (p.Phe69Leu) was identified as a novel dominant pathogenic variant of GJB2 associated with prelingual nonsyndromic sensorineural hearing loss. |
url |
http://dx.doi.org/10.1155/2020/6370386 |
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