The mutation frequency of MT-RNR1 m.1555A>G in familial probands was significantly higher than in sporadic patients (χ(2) test, P = 0.000), while there were no significant differences in the mutation frequencies of GJB2 and SLC26A4 between the familial and sporadic groups (χ(2) test, P > 0.05).
Mutations in the gene GJB2, encoding the gap junction protein connexin 26, are considered to be responsible for up to 50% of familial cases of autosomal recessive non-syndromic hearing loss and for up to 15-30% of the sporadic cases.
Mutations in the gene GJB2, encoding the gap junction protein connexion 26, are considered to be responsible for up to 50% of familial cases of autosomal recessive non-syndromic hearing loss and for up to 15-30% of the sporadic cases.
We report the identification of a novel point mutation in the Cx26 gene, Leu205Pro(L205P), linked to familial, autosomal recessive sensorineural hearing loss.
To identify mutations in the Austrian population, highly selected familial (n=24) and sporadic (n=21) cases of isolated NSHI were screened by analysis of the complete coding sequence of Cx31, after exclusion of a common Cx26 causing deafness.