The most common mutations in the GJB2 gene in Caucasians and Asckenasi Jews is the c.
In studies conducted in our country, the most common mutation found in the GJB2 gene among the other mutations is the c.
The finding of current study represents that mutation 235delC in GJB2 is the most common in newborns of Anhui province, China, followed by IVS7-2A>G in SLC26A4 gene.
It is well known that mutations in GJB2 are the most common cause of inherited hearing loss in various populations of the world (Ouyang et al.
14,15] In the GJB2 gene, two likely pathogenic mutations were detected in two unrelated Cameroonian participants, g.
Few mutations in GJB2, GJB6 or GJA1 genes among other populations of African ancestry
Mo lecular studies in the GJB2 gene (Cx26) among a deaf population from Bogota, Colombia: results of a screening program.
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario.
Based on these results and the phenotypes of family 686, we concluded that the mutations in TJP2 and GJB2
are responsible for hearing loss in this family.
Mutacoes no GJB2
sao as mais frequentes causas de DA de Heranca Autossomica Recessiva (HAR) nao sindromica na maioria da populacao mundial e de algumas populacoes regionais com cerca de 50% dos casos de DA de HAR .