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Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss
Joint Authors
Zhang, Si-Qi
Huang, Sha-Sha
Kang, Dong-Yang
Gao, Xue
Cui, Tian-Yi
Sun, Yan-Yan
Jiang, Xin-Xia
Yang, Yan-Zhong
Zhu, Qing-Wen
Yuan, Yong-Yi
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-12, 12 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-07-01
Country of Publication
Egypt
No. of Pages
12
Main Subjects
Abstract EN
Hereditary hearing loss is one of the most common sensory disabilities worldwide.
Mutation of POU domain class 4 transcription factor 3 (POU4F3) is considered the pathogenic cause of autosomal dominant nonsyndromic hearing loss (ADNSHL), designated as autosomal dominant nonsyndromic deafness 15.
In this study, four novel variants in POU4F3, c.696G>T (p.Glu232Asp), c.325C>T (p.His109Tyr), c.635T>C (p.Leu212Pro), and c.183delG (p.Ala62Argfs∗22), were identified in four different Chinese families with ADNSHL by targeted next-generation sequencing and Sanger sequencing.
Based on the American College of Medical Genetics and Genomics guidelines, c.183delG (p.Ala62Argfs∗22) is classified as a pathogenic variant, c.696G>T (p.Glu232Asp) and c.635T>C (p.Leu212Pro) are classified as likely pathogenic variants, and c.325C>T (p.His109Tyr) is classified as a variant of uncertain significance.
Based on previous reports and the results of this study, we speculated that POU4F3 pathogenic variants are significant contributors to ADNSHL in the East Asian population.
Therefore, screening of POU4F3 should be a routine examination for the diagnosis of hereditary hearing loss.
American Psychological Association (APA)
Cui, Tian-Yi& Gao, Xue& Huang, Sha-Sha& Sun, Yan-Yan& Zhang, Si-Qi& Jiang, Xin-Xia…[et al.]. 2020. Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss. Neural Plasticity،Vol. 2020, no. 2020, pp.1-12.
https://search.emarefa.net/detail/BIM-1202716
Modern Language Association (MLA)
Cui, Tian-Yi…[et al.]. Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss. Neural Plasticity No. 2020 (2020), pp.1-12.
https://search.emarefa.net/detail/BIM-1202716
American Medical Association (AMA)
Cui, Tian-Yi& Gao, Xue& Huang, Sha-Sha& Sun, Yan-Yan& Zhang, Si-Qi& Jiang, Xin-Xia…[et al.]. Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss. Neural Plasticity. 2020. Vol. 2020, no. 2020, pp.1-12.
https://search.emarefa.net/detail/BIM-1202716
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1202716