Children with severe to profound or deteriorating hearing loss also underwent radiologic evaluation with computed tomography and magnetic resonance imaging, and they were referred for genetic testing for
connexin-26 protein.
Clinical features of prevalent form of childhood deafness, DFNB1, due to a
connexin-26 gene defect: implications for genetic counselling.
Clinical features of the prevalent form of the childhood deafness, DFNB1, due to a
connexin-26 gene defect: implications for genetic counselling.
KID is inherited by an autosomal dominant transmission, with a mutation present in the
Connexin-26 gene, which is a structural protein [1-4].
Van Camp, "Determination of the carrier frequency of the common GJB2 (
connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method," Human Mutation, vol.
Connexin-26 mutations in deafness and skin disease.
To analyze the closed state structure of a gap junction channel, an M34A mutant of
connexin-26, which is related to hearing loss, was expressed in Sf9 cells and its structure was analyzed by electron crystallography.
Clinical features of the prevalent form of childhood deafness DFNB1 due to a
connexin-26 gene defect implication for genetic conselling.
A novel deletion involving the connexin-30 gene, del(GJB6d13s1854), found in trans with mutations in the GJB2 gene (
connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
Prevalende of GJB2 (
connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
High prevalence of the W24X mutation in the gene encoding
Connexin-26 (GJB2) in Spanish Romani (Gypsies) with autosomal recessive non-syndromic hearing loss.