Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss

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

“…It was two decades ago that connexins were found to be involved in genetic deafness, when locus DFNB1 has been identified on 13q11 chromosome. Most of the nonsyndromic inherited deafness (60-80% of cases) is associated with mutation of the genes encoding connexins 26,30,31,32,43. Most frequent (40-60%) are the mutations located in the DFNB1 locus, more specifically GJB2 gene (13q11-q12) encoding connexin 26, and GJB6 gene (13q12) encoding connexin 30.…”

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

“…22 Mutation p.Trp24X is widespread in India 23 and in Romany (Gypsy) population (Eastern Europe). 24 Mutation p.Arg143Trp is a major mutation in Ghana (West Africa), 25 and mutation p.Val37Ile has the greatest prevalence among the populations of Southeast Asia (Thailand). 21 In all, 15-20 cases of congenital/early onset HI in 14 000-15 000 live births (B1:900-1:750 newborns) are detected per year in the Sakha Republic (Yakutia) located in Eastern Siberia (that is an extensive Asian part of territory of the Russian Federation).…”

GJB2 Gene Testing, Etiologic Diagnosis and Genetic Counseling in Romanian Persons With Prelingual Hearing Loss

“…This mutation was also found to be a common allele in Spanish Romany populations as well [15]. The p.W24X mutation was also identified in Slovak Romany families [16]. Most patients found homozygous for the c.35delG or p.W24X mutations and compound heterozygous for c.35delG/ W24X mutations presented profound forms of HL (Table 1, 2).…”