title: Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey.
abstract: OBJECTIVE
  Mutations in the genes for connexin 26 (GJB2) and connexin 30 (GJB6) play an important role in autosomal recessive, non-syndromic hearing loss. This study aimed to detect the 35delG and 167delT mutations of the GJB2 gene and the del(GJB6-D13S1830) mutation of the GJB6 gene in paediatric patients diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation in Mediterranean Turkey.
  
  
  METHODS
  We included 94 children diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation. Blood samples were collected, DNA extracted and an enzyme-linked immunosorbent assay performed to enable molecular diagnosis of mutations.
  
  
  RESULTS
  Of the 94 children analysed, the 35delG mutation was detected in 12 (12.7 per cent): 10 (83.3 per cent) were homozygous and 2 (16.7 per cent) heterozygous mutant. The 167delT and del(GJB6-D13S1830) mutations were not detected.
  
  
  CONCLUSIONS
  The GJB2-35delG mutation is a major cause of congenital, non-syndromic hearing loss in this study population.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey.
authors.forename: Ö
authors.initials: Ö
authors.lastname: Tarkan
authors.forename: P
authors.initials: P
authors.lastname: Sari
authors.forename: O
authors.initials: O
authors.lastname: Demirhan
authors.forename: M
authors.initials: M
authors.lastname: Kiroğlu
authors.forename: Ü
authors.initials: Ü
authors.lastname: Tuncer
authors.forename: Ö
authors.initials: Ö
authors.lastname: Sürmelioğlu
authors.forename: S
authors.initials: S
authors.lastname: Ozdemir
authors.forename: M B
authors.initials: MB
authors.lastname: Yilmaz
authors.forename: K
authors.initials: K
authors.lastname: Kara
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D019929:Cochlear Implantation; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D034381:Hearing Loss / Q000151:congenital / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D014421:Turkey
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26; D004247:DNA