Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans
Joint Authors
Chen, Penghui
He, Longxia
Pang, Xiuhong
Yang, Tao
Wu, Hao
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-12-08
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Autosomal dominant nonsyndromic hearing loss (ADNSHL) is extremely heterogeneous.
So far the genetic etiological contribution of the gene POU4F3 associated with ADNSHL has been rarely reported.
In our previous study, a c.603_604delGG mutation in the hair cell specific gene POU4F3 has been identified as the pathogenic cause in one of the seven Chinese Han ADNSHL families.
In the present study, we performed targeted next-generation sequencing of 144 known deafness genes in another nine Chinese Han ADNSHL families and identified two more novel mutations in POU4F3, p.Leu311Pro and c.120+1G>C, as the pathogenic cause.
Clinical characterization of the affected individuals in these three families showed that the three POU4F3 mutations may lead to progressive hearing loss with variable ages of onset and degrees of severity.
Our results suggested that mutations in POU4F3 are a relatively common cause (3/16) for ADNSHL in Chinese Hans, which should be routinely screened in such cases during genetic testing.
American Psychological Association (APA)
He, Longxia& Pang, Xiuhong& Chen, Penghui& Wu, Hao& Yang, Tao. 2016. Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans. Neural Plasticity،Vol. 2016, no. 2016, pp.1-6.
https://search.emarefa.net/detail/BIM-1113424
Modern Language Association (MLA)
He, Longxia…[et al.]. Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans. Neural Plasticity No. 2016 (2016), pp.1-6.
https://search.emarefa.net/detail/BIM-1113424
American Medical Association (AMA)
He, Longxia& Pang, Xiuhong& Chen, Penghui& Wu, Hao& Yang, Tao. Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans. Neural Plasticity. 2016. Vol. 2016, no. 2016, pp.1-6.
https://search.emarefa.net/detail/BIM-1113424
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1113424