title: Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment.
abstract: BACKGROUND
  Hearing loss is a common sensory impairment. Several genetic loci or genes responsible for non-syndrome hearing loss have been identified, including the well-known deafness genes GJB2, MT-RNR1 and SLC26A4. MYO3A belongs to the myosin superfamily. Previously only three mutations in this gene have been found in an Isreali family with DFNB30, in which patients demonstrated progressive hearing loss.
  
  
  METHODS
  In this study, we characterized a consanguineous Kazakh family with congenital hearing loss. By targeted sequence capture and next-generation sequencing, we identified a homozygous mutation and did bioinformatics analysis to this mutation.
  
  
  RESULTS
  A homozygous mutation, MYO3A:c.1841C>T (p.S614F), was identified to be responsible for the disease. Ser614 is located in the motor domain of MYO3A that is highly conserved among different species. Molecular modeling predicts that the conserved Ser614 may play an important role in maintaining the stability of β-sheet and the interaction between neighboring β-strand.
  
  
  CONCLUSIONS
  This is the second report on MYO3A mutations in deafness and the first report in China. The finding help facilitate establishing a better relationship between MYO3A mutation and hearing phenotypes.
authors.affiliation: State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
authors.forename: Ronggui
authors.initials: R
authors.lastname: Qu
authors.affiliation: State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Sang
authors.affiliation: State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Xu
authors.affiliation: State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
authors.forename: Ruizhi
authors.initials: R
authors.lastname: Feng
authors.affiliation: State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
authors.forename: Li
authors.initials: L
authors.lastname: Jin
authors.affiliation: Institutes of Biomedical Sciences, Fudan University, Shanghai, China; Bio-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Lin
authors.initials: L
authors.lastname: He
authors.affiliation: State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, China. Electronic address: wangleiwanglei@fudan.edu.cn.
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
mesh_terms: D002675:Child, Preschool; D002681:China; D003241:Consanguinity; D003638:Deafness / Q000151:congenital / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000208:ethnology / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007623:Kazakhstan / Q000208:ethnology; D008297:Male; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000235:genetics*; D025102:Myosin Type III / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C491724:MYO3A protein, human; D025102:Myosin Type III; D018995:Myosin Heavy Chains
keywords: Congenital non-syndromic autosomal recessive deafness; Missense mutation; Myosin IIIA; Target sequencing