title: A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family.
abstract: OBJECTIVE
  To investigate mutations in GJB2 in a consanguineous Iranian family with multiple members affected by non-syndromic hearing loss.
  
  
  METHODS
  DNA was extracted from blood samples and the coding region of the conexin 26 gene was amplified using PCR. Bidirectional sequencing was carried out on PCR products.
  
  
  RESULTS
  Direct sequencing of the PCR products led to the identification of a novel compound heterozygous mutation of c.551G>C/c.397T>G (p.R184P/p.W133G) and a previously reported homozygous mutation c.551G>C (R184P/R184P). Compound heterozygous mutation was identified in the father and his daughter and homozygous mutation was identified in his affected son. In silico analysis of p.W133G predicted mutation has deleterious effect on protein structure.
  
  
  CONCLUSIONS
  These results show the usefulness of GJB2 mutation screening and bioinformatic analysis for genetic diagnosis and counseling of non-syndromic hearing loss.
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Azadeh
authors.initials: A
authors.lastname: Keivani
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Asieh
authors.initials: A
authors.lastname: Haghighat-Nia
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Esmat
authors.initials: E
authors.lastname: Fazel-Najafabadi
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Majid
authors.initials: M
authors.lastname: Hosseinzadeh
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran; Division of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran. Electronic address: m_salehi@med.mui.ac.ir.
authors.forename: Mansoor
authors.initials: M
authors.lastname: Salehi
mesh_terms: D016022:Case-Control Studies; D015331:Cohort Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003241:Consanguinity; D003638:Deafness / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
keywords: Compound heterozygous mutation; Connexin 26; GJB2 gene; Non-syndromic hearing loss