A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss

Tae-Hun Kang; Jeong-In Baek; Borum Sagong; Hong-Joon Park; Chan Ik Park; Kyu-Yup Lee; Un-Kyung Kim

doi:10.1266/ggs.16-00041

Short communications

A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss

Tae-Hun Kang, Jeong-In Baek, Borum Sagong, Hong-Joon Park, Chan Ik Park, Kyu-Yup Lee , Un-Kyung Kim

Author information

Tae-Hun Kang
Department of Biology, College of Natural Sciences, Kyungpook National University
School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University
Jeong-In Baek
Department of Aroma Applied Industry, College of Herbal Bio-industry, Daegu Haany University
Borum Sagong
Department of Biology, College of Natural Sciences, Kyungpook National University
Hong-Joon Park
Soree Ear Clinics
Chan Ik Park
Department of Aroma Applied Industry, College of Herbal Bio-industry, Daegu Haany University
Kyu-Yup Lee Corresponding author
Department of Otorhinolaryngology–Head and Neck Surgery, School of Medicine, Kyungpook National University
Un-Kyung Kim
Department of Biology, College of Natural Sciences, Kyungpook National University
School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University

Keywords: DIAPH1, diaphanous-related formin 1, DFNA1, autosomal dominant nonsyndromic hearing loss in Koreans

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Supplementary material

2016 Volume 91 Issue 5 Pages 289-292

DOI https://doi.org/10.1266/ggs.16-00041

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Abstract

Hair cells in the cochlea display highly regulated actin polymerization, which is mediated by the human diaphanous-related formin 1 gene (DIAPH1; also called DFNA1, DIA1). DFNA1, the first type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is known to be associated with mutations in DIAPH1. However, no genetic study of DFNA1 in Koreans with hearing loss has yet been reported. A 51-year-old patient in a Korean family with ADNSHL was examined by pure-tone audiometry, and genetic analysis of DIAPH1 was performed. A novel variant, p.I530S (c.1589T > G), was identified in the DIAPH1 gene, and the mutation was located in the highly conserved coiled-coil domain of the DIA1 protein, where an amino acid substitution was predicted to change the domain structure. Further functional investigations will provide more information to help us understand the role of DIAPH1 in maintenance of hair cell function in the auditory pathway.

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