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Ann Hum Genet 2010 Mar 01;742:155-64. doi: 10.1111/j.1469-1809.2010.00564.x.
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GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.

Tekin M , Xia XJ , Erdenetungalag R , Cengiz FB , White TW , Radnaabazar J , Dangaasuren B , Tastan H , Nance WE , Pandya A .

We screened the GJB2 gene for mutations in 534 (108 multiplex and 426 simplex) probands with non-syndromic sensorineural deafness, who were ascertained through the only residential school for the deaf in Mongolia, and in 217 hearing controls. Twenty different alleles, including four novel changes, were identified. Biallelic GJB2 mutations were found in 4.5% of the deaf probands (8.3% in multiplex, 3.5% in simplex). The most common mutations were c.IVS1 + 1G > A (c.-3201G > A) and c.235delC with allele frequencies of 3.5% and 1.5%, respectively. The c.IVS1 + 1G > A mutation appears to have diverse origins based on associated multiple haplotypes. The p.V27I and p.E114G variants were frequently detected in both deaf probands and hearing controls. The p.E114G variant was always in cis with the p.V27I variant. Although in vitro experiments using Xenopus oocytes have suggested that p.[V27I;E114G] disturbs the gap junction function of Cx26, the equal distribution of this complex allele in both deaf probands and hearing controls makes it a less likely cause of profound congenital deafness. We found a lower frequency of assortative mating (37.5%) and decreased genetic fitness (62%) of the deaf in Mongolia as compared to the western populations, which provides an explanation for lower frequency of GJB2 deafness in Mongolia.

PubMed ID: 20201936
PMC ID: PMC4739516
Article link: Ann Hum Genet
Grant support: [+]

Species referenced: Xenopus
Genes referenced: gjb2
GO keywords: gap junction channel activity

Disease Ontology terms: autosomal recessive nonsyndromic deafness [+]
References [+] :
Abe, Prevalent connexin 26 gene (GJB2) mutations in Japanese. 2000, Pubmed