title: Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications.
abstract: Hereditary etiology plays an important role in bilateral profound deafness as a main indication for cochlear implantation. Mutations in DFNB1 locus account for most of the inherited deafness cases in Caucasians. To provide actual data on mutation prevalence among implanted deaf subpopulation, we performed DNA analysis of GJB2 and GJB6 genes in 131 unrelated Slovak cochlear implant users. Eight previously described causal mutations and one probably pathogenic missense variant (c.127G>A) were detected in the GJB2 gene in 58 (44.28%) subjects. The most common mutation found was c.35delG with frequency 83.02% of all disease alleles, followed by c.71G>A, c.1-3201G>A, c.313_326del14, c.109G>A, 167delT, c.269T>C, and c.333_334delAA. GJB6 deletion delD13S1830 was identified in only one subject, in double heterozygosity with a GJB6 mutation. Thus, the deafness cause could be clearly attributable to DFNB1 mutations in 36.64% of the patients examined. In summary, the mutation profile found in our cohort was similar to the mutation spectrum reported for Central European deaf populations. The mutation prevalence in cochlear implant users was, however, almost by 25% higher than previously established for non-implanted hearing-impaired population in Slovakia. Finally, we also demonstrate a certain variability in deafness onset in patients with causal genotype and coincidence with other risk factors for deafness. Our results underline the importance of genetic tests in all cochlear implant candidates.
authors.affiliation: 1st Otorhinolaryngology Clinic, Faculty of Medicine and University Hospital, Comenius University, Antolská 11, 85107, Bratislava, Slovakia.
authors.forename: L
authors.initials: L
authors.lastname: Varga
authors.forename: I
authors.initials: I
authors.lastname: Mašindová
authors.forename: M
authors.initials: M
authors.lastname: Hučková
authors.forename: Z
authors.initials: Z
authors.lastname: Kabátová
authors.forename: D
authors.initials: D
authors.lastname: Gašperíková
authors.forename: I
authors.initials: I
authors.lastname: Klimeš
authors.forename: M
authors.initials: M
authors.lastname: Profant
mesh_terms: D019929:Cochlear Implantation; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000601:surgery; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D018154:Slovakia; D044465:White People / Q000235:genetics*
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26