Journal
GENETICS IN MEDICINE
Volume 4, Issue 4, Pages 258-274Publisher
SPRINGERNATURE
DOI: 10.1097/00125817-200207000-00004
Keywords
GJB2; connexin 26; hearing loss
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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 on three alleles: 167DeltaT, 35DeltaG, and 235DeltaC. These alleles are recessive for nonsyndromic prelingual sensorineural hearing loss, and the evidence suggests complete penetrance but variable expressivity.
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