Genetic analysis of auditory neuropathy spectrum disorder in the Korean population |
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| Authors: | Seung-Hyun Bae Jeong-In Baek Jong Dae Lee Mee Hyun Song Tae-Jun Kwon Se-Kyung Oh Ji Yun Jeong Jae Young Choi Kyu-Yup Lee Un-Kyung Kim |
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| Institution: | 1. Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea;2. Department of Otorhinolaryngology-Head and Neck Surgery, Soonchunhyang University College of Medicine, Bucheon, South Korea;3. Department of Otorhinolaryngology, Kwandong University College of Medicine, Myongji Hospital, Goyang, South Korea;4. Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, South Korea;5. Department of Endocrinology and Metabolism, Kyungpook National University Hospital, Kyungpook National University School of Medicine, Daegu, South Korea;6. Department of Otorhinolaryngology-Head and Neck Surgery, College of Medicine, Kyungpook National University, Deagu, South Korea |
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| Abstract: | Auditory neuropathy spectrum disorder (ANSD) is caused by dys-synchronous auditory neural response as a result of impairment of the functions of the auditory nerve or inner hair cells, or synapses between inner hair cells and the auditory nerve. To identify a causative gene causing ANSD in the Korean population, we conducted gene screening of the OTOF, DIAPH3, and PJVK genes in 19 unrelated Korean patients with ANSD. A novel nonsense mutation (p.Y1064X) and a known pathogenic mutation (p.R1939Q) of the OTOF gene were identified in a patient as compound heterozygote. Pedigree analysis for these mutations showed co-segregation of mutation genotype and the disease in the family, and it supported that the p.Y1064X might be a novel genetic cause of autosomal recessive ANSD. A novel missense variant p.K1017R (c.3050A>G) in the DIAPH3 gene was also identified in the heterozygous state. In contrast, no mutation was detected in the PJVK gene. These results indicate that no major causative gene has been reported to date in the Korean population and that pathogenic mutations in undiscovered candidate genes may have an effect on ANSD. |
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| Keywords: | ANSD auditory neuropathy spectrum disorder AUNA1 autosomal dominant auditory neuropathy DIAPH3 diaphanous homolog 3 GJB2 gap junction protein beta 2 OTOF otoferlin OHCs outer hair cells PJVK pejvakin PTA pure tone audiometry |
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