Mutation analysis of the<i>Cx26</i>,<i>Cx30</i>, and<i>Cx31</i>genes in autosomal recessive nonsyndromic hearing impairment

Abstract

In one patient digenic heterozygous mutations involving Cx26 (c.35delG) and Cx30 (c.del(GJB6-D13S1830)) were identified. Biallelic Cx26 mutations were detected in 31%. One putative mutation (c.94C>T) was found in Cx31. MLPA analysis did not reveal any additional deletion or duplication in all three Cx genes, except for the heterozygous c.del(GJB6-D13S1830) deletion.