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Genetic analysis of auditory neuropathy spectrum disorder in the Korean population

Authors
Bae, Seung-HyunBaek, Jeong-InLee, Jong DaeSong, Mee HyunKwon, Tae-JunOh, Se-KyungJeong, Ji YunChoi, Jae YoungLee, Kyu-YupKim, Un-Kyung
Issue Date
10-Jun-2013
Publisher
Elsevier BV
Keywords
Auditory neuropathy; OTOF; DIAPH3; PJVK; Mutation; Korea
Citation
Gene, v.522, no.1, pp 65 - 69
Pages
5
Journal Title
Gene
Volume
522
Number
1
Start Page
65
End Page
69
URI
https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/13588
DOI
10.1016/j.gene.2013.02.057
ISSN
0378-1119
1879-0038
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. (C) 2013 Elsevier B.V. All rights reserved.
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