Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

摘要: Hearing loss is the most frequent sensory disorder. It affects 3 in 1000 newborns. genetically heterogeneous with 60 causally-related genes identified to date. Mutations GJB2 gene account for half of all cases non-syndromic deafness. The aim this study was determine relative frequency allele variants Tunisia. In study, we screened 138 patients congenital hearing belonging 131 families originating from different parts Tunisia mutations gene. were found 39% (51/131). common mutation c.35delG accounting 35% (46/131). second p.E47X present 3.8% families. Four our cohort have not been reported Tunisia; p.V37I, c.235delC, p.G130A and splice site IVS1+1G>A (0.76%). These previously described detected only Northern other geographical regions conclusion confirmed high which represents 85.4% mutant alleles. We also extended mutational spectrum revealed a more pronounced allelic heterogeneity North compared rest country.