title: Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.
abstract: The TMPRSS3 gene (DFNB8/10), which encodes a transmembrane serine protease, is a common hearing loss gene in several populations. Accurate functions of TMPRSS3 in the hearing pathway are still unknown, but TMPRSS3 has been reported to play a crucial role in inner ear development or maintenance. To date, 16 pathogenic mutations have been identified in many countries, but no mutational studies of the TMPRSS3 gene have been conducted in the Korean hearing loss population. In this study, we performed genetic analysis of TMPRSS3 in 40 unrelated Korean patients with autosomal recessive hearing loss to identify the aspect and frequency of TMPRSS3 gene mutations in the Korean population. A total of 22 variations were detected, including a novel variant (p.V291L) and a previously reported pathogenic mutation (p.A306T). The p.A306T mutation which has been detected in only compound heterozygous state in previous studies was identified in homozygous state for the first time in this study. Moreover, the clinical evaluation identified bilateral dilated vestibules in the patient with p.A306T mutation, and it suggested that p.A306T mutation of the TMPRSS3 gene might be associated with vestibular anomalies. In conclusion, this study investigated that only 2.5% of patients with autosomal recessive hearing loss were related to TMPRSS3 mutations suggesting low prevalence of TMPRSS3 gene in Korean hearing loss population. Also, it will provide the information of genotype-phenotype correlation to understand definite role of TMPRSS3 in the auditory system.
authors: Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea.
authors: Jinwook
authors: J
authors: Lee
authors: Jeong-In
authors: JI
authors: Baek
authors: Jae Young
authors: JY
authors: Choi
authors: Un-Kyung
authors: UK
authors: Kim
authors: Sang-Heun
authors: SH
authors: Lee
authors: Kyu-Yup
authors: KY
authors: Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins; D004252:DNA Mutational Analysis; D003638:Deafness / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D011859:Radiography; D056910:Republic of Korea; D017422:Sequence Analysis, DNA; D012697:Serine Endopeptidases / Q000235:genetics*; D014722:Vestibule, Labyrinth / Q000000981:diagnostic imaging / Q000473:pathology; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D000072259:Connexin 26; D012697:Serine Endopeptidases; C409042:TMPRSS3 protein, human
keywords: ARNSHL; GJB2; Gene; Hearing loss; Korean; PTA; TBCT; TMPRSS3; Variations; autosomal recessive non-syndromic hearing loss; gap junction protein, beta 2, 26kDa; pure tone audiometry; temporal bone computerized tomography; transmembrane protease, serine 3