title: Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.
abstract: CONCLUSIONS
  This study demonstrates that the gap junction protein beta-2 gene (GJB2) p.R32C and p.L79Cfs*3 variants are associated to a consanguineous family with autosomal recessive non-syndromic hearing loss (ARNSHL). The p.R32C variant is found for the first time in the NSHL patients of Han Chinese origin. The finding sheds new light on the accurate genetic diagnosis and counseling for the family.
  
  
  OBJECTIVE
  ARNSHL is a highly heterogeneous genetic disease. ARNSHL usually displays non-progressive congenital or pre-lingual deafness. In this study, the aim is to detect the disease-causing mutation(s) in a Han family with ARNSHL.
  
  
  METHODS
  A consanguineous Han family with ARNSHL was enrolled. Two hundred ethnicity-matched unrelated subjects without any hearing impairments were used as normal controls. Exome sequencing and Sanger sequencing were applied to identify the causative mutation in the ARNSHL family.
  
  
  RESULTS
  Compound heterozygous variants c.94C > T (p.R32C) and c.235delC (p.L79Cfs*3) in the GJB2 gene were identified in the two patients of the ARNSHL family, and the heterozygous GJB2 c.94C > T and c.235delC variants were identified in his unaffected father and mother, respectively. The two variants in the GJB2 gene were absent in the 200 unrelated controls.
authors.affiliation: a Center for Experimental Medicine and Department of Neurology , the Third Xiangya Hospital, Central South University , Changsha , PR China ;|b Department of Emergency , the Third Xiangya Hospital, Central South University , Changsha , PR China ;
authors.forename: Hong
authors.initials: H
authors.lastname: Xia
authors.affiliation: a Center for Experimental Medicine and Department of Neurology , the Third Xiangya Hospital, Central South University , Changsha , PR China ;
authors.forename: Hongbo
authors.initials: H
authors.lastname: Xu
authors.affiliation: a Center for Experimental Medicine and Department of Neurology , the Third Xiangya Hospital, Central South University , Changsha , PR China ;
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.affiliation: a Center for Experimental Medicine and Department of Neurology , the Third Xiangya Hospital, Central South University , Changsha , PR China ;
authors.forename: Lamei
authors.initials: L
authors.lastname: Yuan
authors.affiliation: c Cancer Research Institute, Xiangya School of Medicine, Central South University , Changsha , PR China.
authors.forename: Wei
authors.initials: W
authors.lastname: Xiong
authors.affiliation: a Center for Experimental Medicine and Department of Neurology , the Third Xiangya Hospital, Central South University , Changsha , PR China ;
authors.forename: Zhijian
authors.initials: Z
authors.lastname: Yang
authors.affiliation: a Center for Experimental Medicine and Department of Neurology , the Third Xiangya Hospital, Central South University , Changsha , PR China ;
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008875:Middle Aged
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
keywords: Exome sequencing; GJB2 gene; deafness; mutation