PubMed:17671735 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/17671735","sourcedb":"PubMed","sourceid":"17671735","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/17671735","text":"Coincidence of mutations in different connexin genes in Hungarian patients.\nMutations in the GJB2 gene are the most common cause of hereditary prelingual sensorineural hearing impairment in Europe. Several studies indicate that different members of the connexin protein family interact to form gap junctions in the inner ear. Mutations in different connexin genes may accumulate and, consequently lead to hearing impairment. Therefore, we screened 47 Hungarian GJB2- heterozygous (one mutation in coding exon of the GJB2 gene) patients with hearing impairment for DNA changes in two further connexin genes (GJB6 and GJB3) and in the 5' non-coding region of GJB2 including the splice sites. Eleven out of 47 GJB2-heterozygous patients analyzed carried the splice site mutation -3170G\u003eA in the 5'UTR region of GJB2. One out of these 11 patients showed homozygous -3170G\u003eA genotype in combination with p.R127H. Next to the GJB2 mutations we noted 2 cases of deletion in GJB6 [Delta(GJB6-D13S1830)] and 3 (2 new and 1 described) base substitutions in GJB3 [c.357C\u003eT, c.798C\u003eT and c.94C\u003eT (p.R32W)] which are unlikely disease-causing. Our results suggest the importance of routine screening for the rather frequent -3170G\u003eA mutation (in addition to c.35delG) in patients with hearing 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