Comparison of pathogenic mutations found in GJB2 in a few populations of African ancestry Variations Genomic Coding g.
5] Mutations in gap junction (GJ) genes, specifically GJB2 (connexin 26), have been shown to be the major contributors to deafness globally.
GJB2 was the second beta connexin gene to be identified.
No mutations in connexin genes GJB2, GJB6 or GJA1 among Cameroonians and Xhosa South Africans
Some studies reported a high prevalence of GJB2 heterozygous mutations in patients bearing the 1555A [right arrow] G mitochondrial mutation suggesting that GJB2 mutations may aggravate the phenotypic expression of 1555A-G 12S rRNA gene mutation (97).
GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with prelingual deafness.
High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).