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Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.

ABSTRACT: 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.

SUBMITTER: Cui TY 

PROVIDER: S-EPMC7349627 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Four Novel Variants in <i>POU4F3</i> Cause Autosomal Dominant Nonsyndromic Hearing Loss.

Cui Tian-Yi TY   Gao Xue X   Huang Sha-Sha SS   Sun Yan-Yan YY   Zhang Si-Qi SQ   Jiang Xin-Xia XX   Yang Yan-Zhong YZ   Kang Dong-Yang DY   Zhu Qing-Wen QW   Yuan Yong-Yi YY  

Neural plasticity 20200701

Hereditary hearing loss is one of the most common sensory disabilities worldwide. Mutation of POU domain class 4 transcription factor 3 <i>(POU4F3</i>) 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 <i>POU4F3</i>, 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 Chin  ...[more]

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