A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family
Joint Authors
Gao, Xue
Xu, Jin-Cao
Wang, Wei-Qian
Yuan, Yong-Yi
Bai, Dan
Huang, Sha-Sha
Wang, Guo-Jian
Su, Yu
Li, Jia
Kang, Dong-Yang
Zhang, Mei-Guang
Lin, Xi
Dai, Pu
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-04-04
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Hereditary nonsyndromic hearing loss is extremely heterogeneous.
Mutations in the POU class 4 transcription factor 3 (POU4F3) are known to cause autosomal dominant nonsyndromic hearing loss linked to the loci of DFNA15.
In this study, we describe a pathogenic missense mutation in POU4F3 in a four-generation Chinese family (6126) with midfrequency, progressive, and postlingual autosomal dominant nonsyndromic hearing loss (ADNSHL).
By combining targeted capture of 129 known deafness genes, next-generation sequencing, and bioinformatic analysis, we identified POU4F3 c.602T>C (p.Leu201Pro) as the disease-causing variant.
This variant cosegregated with hearing loss in other family members but was not detected in 580 normal controls or the ExAC database and could be classified as a “pathogenic variant” according to the American College of Medical Genetics and Genomics guidelines.
We conclude that POU4F3 c.602T>C (p.Leu201Pro) is related to midfrequency hearing loss in this family.
Routine examination of POU4F3 is necessary for the genetic diagnosis of midfrequency hearing loss.
American Psychological Association (APA)
Gao, Xue& Xu, Jin-Cao& Wang, Wei-Qian& Yuan, Yong-Yi& Bai, Dan& Huang, Sha-Sha…[et al.]. 2018. A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family. BioMed Research International،Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1127255
Modern Language Association (MLA)
Gao, Xue…[et al.]. A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family. BioMed Research International No. 2018 (2018), pp.1-7.
https://search.emarefa.net/detail/BIM-1127255
American Medical Association (AMA)
Gao, Xue& Xu, Jin-Cao& Wang, Wei-Qian& Yuan, Yong-Yi& Bai, Dan& Huang, Sha-Sha…[et al.]. A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1127255
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1127255