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10.1089/gtmb.2014.0175 http://scihub22266oqcxt.onion/10.1089/gtmb.2014.0175 C4217022!4217022!25285676     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=25285676&cmd=llinks): Failed to open stream: HTTP request failed! 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Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations |pdf=|usr=}}{{25285676}} gab.com Text Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations JO: Genet Test Mol Biomarkers http://www.kidney.de/pget.php?&tw=1&pmid=25285676 #FOAvip Background: Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant and recessive forms have been described; the latter is also associated with sensorineural hearing loss. Methods: Twenty-two Tunisian families were analyzed for mutations in the ATP6V1B1 and ATP6V0A4 genes by direct sequencing. Dating of the founder mutations was performed. Results: Two founder mutations in the ATP6V1B1 gene were found in 16/27 dRTA cases. The p.Ile386Hisfs*56 founder mutation was estimated to be older than 2400 years and no correlations were found with deafness. For the remaining patients, two mutations in the ATP6V0A4 gene, one of them being novel, were found in three Tunisian cases. The presence of a heterozygous missense mutation p.T30I, of the ATP6V1B1 gene, was identified in six patients, while no mutations of the second gene were detected. No deleterious mutations of either ATP6V1B1 or ATP6V0A were found for the two probands. Conclusion: Our study gives evidence of phenotypic and genotypic heterogeneity of dRTA in the Tunisian population. Five different mutations were found, two of them were due to a founder effect, and screening of these mutations could provide a rapid and valuable tool for diagnosis of dRTA. Twit Text FOAVip Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations ????Genet Test Mol Biomarkers http://www.kidney.de/pget.php?&tw=1&pmid=25285676 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25285676 #FOAvip English Wikipedia <ref>{{Cite pmid|25285676}}</ref> Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations #MMPMID25285676 Nagara M; Voskarides K; Nouira S; Ben Halim N; Kefi R; Aloulou H; Romdhane L; Ben Abdallah R; Ben Rhouma F; Aissa K; Boughamoura L; Kammoun T; Azzouz H; Abroug S; Ben Turkia H; Ayadi A; Mrad R; Chabchoub I; Hachicha M; Chemli J; Deltas C; Abdelhak S Genet Test Mol Biomarkers 2014[Nov]; 18 (11): 741-8 PMID25285676show ga Background: Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant and recessive forms have been described; the latter is also associated with sensorineural hearing loss. Methods: Twenty-two Tunisian families were analyzed for mutations in the ATP6V1B1 and ATP6V0A4 genes by direct sequencing. Dating of the founder mutations was performed. Results: Two founder mutations in the ATP6V1B1 gene were found in 16/27 dRTA cases. The p.Ile386Hisfs*56 founder mutation was estimated to be older than 2400 years and no correlations were found with deafness. For the remaining patients, two mutations in the ATP6V0A4 gene, one of them being novel, were found in three Tunisian cases. The presence of a heterozygous missense mutation p.T30I, of the ATP6V1B1 gene, was identified in six patients, while no mutations of the second gene were detected. No deleterious mutations of either ATP6V1B1 or ATP6V0A were found for the two probands. Conclusion: Our study gives evidence of phenotypic and genotypic heterogeneity of dRTA in the Tunisian population. Five different mutations were found, two of them were due to a founder effect, and screening of these mutations could provide a rapid and valuable tool for diagnosis of dRTA. äMolecular Investigation of Distal Renal Tubular Acidosis in Tunisia, E(epmc).pdf DeepDyve Pubget Overpricing