title: A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.
abstract: BACKGROUND
  The genetic basis of autosomal dominant nonsyndromic hearing loss is complex. Genetic factors are responsible for approximately 50% of cases with congenital hearing loss. However, no previous studies have documented the clinical phenotype and genetic basis of autosomal dominant nonsyndromic hearing loss in Mongolians.
  
  
  METHODS
  In this study, we performed exon capture sequencing of a Mongolian family with hereditary hearing loss and identified a novel mutation in TECTA gene, which encodes α -tectorin, a major component of the inner ear extracellular matrix that contacts the specialized sensory hair cells.
  
  
  RESULTS
  The novel G → T missense mutation at nucleotide 6016 results in a substitution of amino acid aspartate at 2006 with tyrosine (Asp2006Tyr) in a highly conserved zona pellucida (ZP) domain of α-tectorin. The mutation is not found in control subjects from the same family with normal hearing and a genotype-phenotype correlation is observed.
  
  
  CONCLUSIONS
  A novel missense mutation c.6016 G > T (p.Asp2006Tyr) of TECTA gene is a characteristic TECTA-related mutation which causes autosomal dominant nonsyndromic hearing loss. Our result indicated that mutation in TECTA gene is responsible for the hearing loss in this Mongolian family.
authors.forename: Haihua
authors.initials: H
authors.lastname: Bai
authors.forename: Xukui
authors.initials: X
authors.lastname: Yang
authors.lastname: Temuribagen
authors.lastname: Guilan
authors.lastname: Suyalatu
authors.lastname: Narisu
authors.forename: Huiguang
authors.initials: H
authors.lastname: Wu
authors.forename: Yujie
authors.initials: Y
authors.lastname: Chen
authors.forename: Yangjian
authors.initials: Y
authors.lastname: Liu
authors.forename: Qizhu
authors.initials: Q
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D058851:GPI-Linked Proteins / Q000737:chemistry / Q000235:genetics; D005799:Genes, Dominant; D056726:Genetic Association Studies; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D016415:Sequence Alignment; D055815:Young Adult
chemical_list: D016326:Extracellular Matrix Proteins; D058851:GPI-Linked Proteins; C491350:TECTA protein, human