GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review

@article{Kenneson2002GJB22,
  title={GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review},
  author={Aileen Kenneson and Kim Braun and Coleen Boyle},
  journal={Genetics in Medicine},
  year={2002},
  volume={4},
  pages={258-274}
}
Despite the enormous heterogeneity of genetic hearing loss, variants in one locus, Gap Junction Beta 2 or GJB2 (connexin 26), account for up to 50% of cases of nonsyndromic sensorineural hearing loss in some populations. This article reviews genetic epidemiology studies of the alleles of GJB2, prevalence rates, genotype-phenotype relations, contribution to the incidence of hearing loss, and other issues related to the clinical validity of genetic testing for GJB2. This review focuses primarily… CONTINUE READING
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