Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family
Joint Authors
Gao, Xue
Huang, Sha-Sha
Kang, Dong-Yang
Dai, Pu
Wang, Yufeng
Zhang, Xin
Yang, Suyan
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-01-22
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Huang, Sha-Sha& Gao, Xue& Wang, Yufeng& Kang, Dong-Yang& Zhang, Xin& Yang, Suyan…[et al.]. 2020. Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family. BioMed Research International،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1135783
Modern Language Association (MLA)
Huang, Sha-Sha…[et al.]. Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family. BioMed Research International No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1135783
American Medical Association (AMA)
Huang, Sha-Sha& Gao, Xue& Wang, Yufeng& Kang, Dong-Yang& Zhang, Xin& Yang, Suyan…[et al.]. Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1135783
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1135783