Maria Kamarinos

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Genetic hearing impairment affects approximately 1/2000 live births. Mutations in one gene, GJB2, coding for connexin 26 cause 10%–20% of all genetic sensorineural hearing loss. Mutation analysis in the GJB2 gene and audiology were performed on 106 families presenting with at least one child with congenital hearing loss. The families were recruited from a(More)
Hereditary hearing loss is a heterogeneous condition at both the genetic and clinical levels. We have recruited an Australian family with dominant sensorineural nonsyndromic late onset hearing loss. The hearing loss typically begins in the second or third decade of life as a high frequency loss which progresses to a severe to profound loss by the sixth to(More)
OBJECTIVE To determine (1) the prevalence and nature of connexin 26 mutations in a cohort of Australian children with non-syndromic hearing loss, and (2) the carrier frequency of the common connexin 26 mutation (35delG) in the general population. DESIGN A cohort, case-finding study. Mutation analysis was performed on DNA extracted from white blood cells,(More)
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