GJB2 and GJB6 genes mutations in children with non-syndromic hearing loss

Introduction. At the moment there is not enough data in Romania about the incidence of the main genetic mutations which can cause hearing loss. Objective. The current research aims to determine on a representative sample the prevalence of two mutations of genes GJB2 -c.35delG and p.W24X- and two mutations of genes GJB6 -del(GJB6-D13S1830), del(GJB6-D13S1854) respectively - in patients with congenital nonsyndromic sensorineural hearing loss (CNSHL). Methods: The sample group included 179 children with CNSHL. The evaluation consist in: a.Clinical, laboratory and imagistic examination; b.ENT exam and audiological evaluation. c.Two methods (semi-nested PCR technique followed by RFLP, validated with ARMS-PCR analysis) for detection of c.35delG and pW24X mutations; d.PCR-multiplex technique for detecting del(GJB6-D13S1830) and del (GJB6-D13S1854). Results: The audiological diagnosis was: profound hearing loss in 116 patients (64.8%), severe hearing loss in 29 children (16.2%) and moderate hearing loss in 34 patients (representing 19% of the trial patients). The prevalence for the three mutations was: 27.3 % for c.35delG, 3.6 % for p.W24X and 0.28% for del(GJB6-D13S1830). The detection of the three mutations (two on GJB2 gene and one on GJB 6 gene) has allowed to establish the genetic cause for deafness in 45 patients, representing 25.14% of the sample group. Our study is reporting the first case in Romania with a mutation of gene GJB6. Mutation del(GJB6-D13S1854) lacked in all 179 patients. Conclusion: The prevalence data obtained in the current research are comparable to data communicated by studies from other European countries.