GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.

@article{Tekin2010GJB2MI,
  title={GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.},
  author={Mustafa Tekin and Xia-Juan Xia and Radnaabazar Erdenetungalag and Filiz Başak Cengiz and Thomas W. White and Janchiv Radnaabazar and Begzsuren Dangaasuren and Hakki Taştan and Walter E. Nance and Arti Pandya},
  journal={Annals of human genetics},
  year={2010},
  volume={74 2},
  pages={155-64}
}
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… CONTINUE READING

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High carrier frequency of the 35delG deafness mutation in European populations

European Journal of Human Genetics • 2000
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Highly Influenced

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