title: Genetic association of MYH genes with hereditary hearing loss in Korea.
abstract: BACKGROUND
  Myosin is a key protein involved in regulating the shape and motility of cells. The MYH9 and MYH14 genes, which encode non-muscle myosin heavy chain IIA (NMMHC II-A) and IIC (NMMHC II-C), respectively, are expressed in the inner ear. These myosin genes are known to be associated with autosomal dominant non-syndromic hearing loss (ADNSHL); however, genetic studies in patients with ADNSHL in Korea have rarely been reported.
  
  
  METHODS
  We analyzed the MYH9 and MYH14 genes in 75 Korean patients with ADNSHL.
  
  
  RESULTS
  We identified 4 possible pathogenic variants: a novel variant p.F1303L and 2 previously reported variants (p.R1730C and p.R1785C) in the MYH9 gene, and a novel variant p.A1868T in the MYH14 gene. All the variants were located in the myosin tail domain, which is essential for the interaction of myosin with actin. These variants were predicted to be possibly pathogenic by functional prediction tools and were absent in 100 unrelated normal controls.
  
  
  CONCLUSIONS
  These results suggest that all the variants identified in this study have a strong potential to affect the structural stability and/or function of non-muscle myosin in the inner ear, which might lead to ADNSHL. This study establishes the link between the genotype and development of ADNSHL and contributes to the establishment of Korean database for hereditary hearing loss.
authors.affiliation: Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu 41566, Republic of Korea.
authors.forename: Sang-Joo
authors.initials: SJ
authors.lastname: Kim
authors.affiliation: Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu 41566, Republic of Korea.
authors.forename: Seokwon
authors.initials: S
authors.lastname: Lee
authors.affiliation: Soree Ear Clinics, Seoul 06068, Republic of Korea.
authors.forename: Hong-Joon
authors.initials: HJ
authors.lastname: Park
authors.affiliation: Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu 41566, Republic of Korea.
authors.forename: Tae-Hun
authors.initials: TH
authors.lastname: Kang
authors.affiliation: Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea.
authors.forename: Borum
authors.initials: B
authors.lastname: Sagong
authors.affiliation: Department of Aroma Applied Industry, College of Herbal Bio-industry, Daegu Haany University, Gyeongsan 38610, Republic of Korea.
authors.forename: Jeong-In
authors.initials: JI
authors.lastname: Baek
authors.affiliation: Division of Life Sciences, Korea Polar Research Institute (KOPRI), Incheon 21990, Republic of Korea.
authors.forename: Se-Kyung
authors.initials: SK
authors.lastname: Oh
authors.affiliation: Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
authors.forename: Jae Young
authors.initials: JY
authors.lastname: Choi
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, Kyungpook National University, Daegu 41944, Republic of Korea. Electronic address: kylee@knu.ac.kr.
authors.forename: Kyu-Yup
authors.initials: KY
authors.lastname: Lee
authors.affiliation: Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu 41566, Republic of Korea. Electronic address: kimuk@knu.ac.kr.
authors.forename: Un-Kyung
authors.initials: UK
authors.lastname: Kim
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D056910:Republic of Korea
chemical_list: D018995:Myosin Heavy Chains
keywords: MYH14 gene; MYH9 gene; Myosin; Non-muscle myosin heavy chain; Non-syndromic hearing loss