Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss

Tan,Minxing; Shen,Xiaofei; Yao,Jun; Wei,Qinjun; Lu,Yajie; Cao,Xin; Xing,Guangqian

doi:10.3892/ijmm.2014.1939

December-2014 Volume 34 Issue 6

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December-2014 Volume 34 Issue 6

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Article Open Access

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss

Authors:
- Minxing Tan
- Xiaofei Shen
- Jun Yao
- Qinjun Wei
- Yajie Lu
- Xin Cao
- Guangqian Xing
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Affiliations: Department of Otolaryngology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China, Department of Biotechnology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China

Copyright: © Tan et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].
Pages: 1467-1472
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Published online on: September 19, 2014

https://doi.org/10.3892/ijmm.2014.1939
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Abstract

Hearing loss is the most common sensory deficit in humans and gaining a better understanding of the underlying causes is necessary to improve counseling and rehabilitation. In the present study, a genetic analysis of a Chinese family with autosomal dominant non‑syndromic progressive hearing impairment was conducted and assessed. Whole‑exome sequencing in combination with a co‑segregation analysis identified a novel missense mutation in EYA4 exon 15 (c.T1301A; p.I411K). The mutation segregated with the hearing loss of the family. This mutation was not identified in the databases of 1000 genome Project, dbSNP 130, HapMap and YH project or in matched controls. Bioinformatic analysis confirmed the pathogenic effects of this mutation. To the best of our knowledge, this is the first report to provide a description of a missense mutation in the EYA4 gene resulting in non‑syndromic hearing loss. Our results provide additional molecular and clinical information in order to gain improved understanding of the pathogenesis of EYA4 mutations and the genotype‑phenotype correlations of DFNA10 hearing loss.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss

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