title: Genetic analysis of auditory neuropathy spectrum disorder in the Korean population.
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.
authors.affiliation: Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea.
authors.forename: Seung-Hyun
authors.initials: SH
authors.lastname: Bae
authors.forename: Jeong-In
authors.initials: JI
authors.lastname: Baek
authors.forename: Jong Dae
authors.initials: JD
authors.lastname: Lee
authors.forename: Mee Hyun
authors.initials: MH
authors.lastname: Song
authors.forename: Tae-Jun
authors.initials: TJ
authors.lastname: Kwon
authors.forename: Se-Kyung
authors.initials: SK
authors.lastname: Oh
authors.forename: Ji Yun
authors.initials: JY
authors.lastname: Jeong
authors.forename: Jae Young
authors.initials: JY
authors.lastname: Choi
authors.forename: Kyu-Yup
authors.initials: KY
authors.lastname: Lee
authors.forename: Un-Kyung
authors.initials: UK
authors.lastname: Kim
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D018389:Codon, Nonsense; D005091:Exons; D005260:Female; D000080865:Formins; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006311:Hearing Disorders / Q000235:genetics*; D006313:Hearing Loss, Central / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D056910:Republic of Korea; D000094524:Gasdermins
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D018389:Codon, Nonsense; D000080865:Formins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C484571:DIAPH3 protein, human; C118457:OTOF protein, human; C519847:PJVK protein, human; D000094524:Gasdermins