title: GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
abstract: 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: 167 Delta T, 35 Delta G, and 235 Delta C. These alleles are recessive for nonsyndromic prelingual sensorineural hearing loss, and the evidence suggests complete penetrance but variable expressivity.
authors.affiliation: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341-3724, USA.
authors.forename: Aileen
authors.initials: A
authors.lastname: Kenneson
authors.forename: Kim
authors.initials: K
authors.lastname: Van Naarden Braun
authors.forename: Coleen
authors.initials: C
authors.lastname: Boyle
mesh_terms: D017668:Age of Onset; D000483:Alleles; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D018450:Disease Progression; D014644:Genetic Variation; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006316:Hearing Loss, High-Frequency / Q000235:genetics; D006801:Humans
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26