title: Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss.
abstract: OBJECTIVE
  Autosomal recessive non-syndromic hearing loss (DFNB) is a genetically heterogeneous disorder. So far, 55 pathogenic genes have been identified. In this study, we aim to characterize the clinical feature and the genetic cause of a Chinese DFNB family.
  
  
  METHODS
  Whole exome sequencing was performed on the proband. Co-segregation between the hearing loss phenotype and the potential causative mutations was verified in all family members by Sanger sequencing.
  
  
  RESULTS
  Audiologic profiles of the affected family members revealed a moderate hearing loss mainly affecting higher frequencies. Novel biallelic OTOGL mutations, c.6467C>A (p.Ser2156*) and c.6474dupA (p.Ser2159Metfs*2), were identified in this family segregating with the childhood onset DFNB. Both mutations were predicted to cause either nonsense mediated mRNA decay or premature terminations of protein synthesis.
  
  
  CONCLUSIONS
  We identified novel biallelic OTOGL mutations in a Chinese DFNB family. To the best of our knowledge, this is the first report of OTOGL mutations causing hearing loss in the East Asian population. Our finding enriched the mutation spectrum of OTOGL associated hearing loss.
authors.affiliation: Department of Otorhinolaryngology, Affiliated Eye and ENT Hospital of Fudan University, Shanghai 200031, China.
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Gu
authors.affiliation: Research Center, Affiliated Eye and ENT Hospital of Fudan University, Shanghai 200031, China.
authors.forename: Shan
authors.initials: S
authors.lastname: Sun
authors.affiliation: Research Center, Affiliated Eye and ENT Hospital of Fudan University, Shanghai 200031, China.
authors.forename: Luo
authors.initials: L
authors.lastname: Guo
authors.affiliation: Department of Otorhinolaryngology, Affiliated Eye and ENT Hospital of Fudan University, Shanghai 200031, China.
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Lu
authors.affiliation: Department of Otorhinolaryngology, Affiliated Eye and ENT Hospital of Fudan University, Shanghai 200031, China.
authors.forename: Honglin
authors.initials: H
authors.lastname: Mei
authors.affiliation: Research Center, Affiliated Eye and ENT Hospital of Fudan University, Shanghai 200031, China.
authors.forename: Chuijin
authors.initials: C
authors.lastname: Lai
authors.affiliation: Department of Otorhinolaryngology, Affiliated Eye and ENT Hospital of Fudan University, Shanghai 200031, China; Institute of Stem Cell and Regeneration Medicine, Institutions of Biomedical Science, Fudan University, Shanghai 200032, China; State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai 200032, China; Key Laboratory of Hearing Science, Ministry of Health, Affiliated Eye and ENT Hospital of Fudan University, Shanghai 200031, China. Electronic address: lihuawei63@gmail.com.
authors.forename: Huawei
authors.initials: H
authors.lastname: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D002681:China; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
chemical_list: D008565:Membrane Proteins; C577332:OTOGL protein, human
keywords: Non-syndromic sensorineural hearing loss; OTOGL; Whole exome sequencing