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dc.contributor.authorNagara, Majdien
dc.contributor.authorVoskarides, Konstantinosen
dc.contributor.authorNouira, S.en
dc.contributor.authorBen Halim, N.en
dc.contributor.authorKefi Ben Atig, Rymen
dc.contributor.authorAloulou, Hajeren
dc.contributor.authorRomdhane, L.en
dc.contributor.authorBen Abdallah, R.en
dc.contributor.authorBen Rhouma, F.en
dc.contributor.authorAissa, K.en
dc.contributor.authorBoughamoura, L.en
dc.contributor.authorKammoun, T.en
dc.contributor.authorAzzouz, H.en
dc.contributor.authorAbroug, S.en
dc.contributor.authorBen Turkia, H.en
dc.contributor.authorAyadi, A.en
dc.contributor.authorMrad, R.en
dc.contributor.authorChabchoub, I.en
dc.contributor.authorHachicha, M.en
dc.contributor.authorChemli, J.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.contributor.authorAbdelhak, S.en
dc.creatorNagara, Majdien
dc.creatorVoskarides, Konstantinosen
dc.creatorNouira, S.en
dc.creatorBen Halim, N.en
dc.creatorKefi Ben Atig, Rymen
dc.creatorAloulou, Hajeren
dc.creatorRomdhane, L.en
dc.creatorBen Abdallah, R.en
dc.creatorBen Rhouma, F.en
dc.creatorAissa, K.en
dc.creatorBoughamoura, L.en
dc.creatorKammoun, T.en
dc.creatorAzzouz, H.en
dc.creatorAbroug, S.en
dc.creatorBen Turkia, H.en
dc.creatorAyadi, A.en
dc.creatorMrad, R.en
dc.creatorChabchoub, I.en
dc.creatorHachicha, M.en
dc.creatorChemli, J.en
dc.creatorConstantinou-Deltas, Constantinos D.en
dc.creatorAbdelhak, S.en
dc.description.abstractBACKGROUND: 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 describeden
dc.description.abstractthe 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.en
dc.sourceGenetic testing and molecular biomarkersen
dc.subjectclinical trialen
dc.subjectCase-Control Studiesen
dc.subjectcase control studyen
dc.subjectkidney tubule acidosisen
dc.subjecthigh throughput sequencingen
dc.subjectfounder effecten
dc.subjectAcidosis, Renal Tubularen
dc.subjectVacuolar Proton-Translocating ATPasesen
dc.subjectATP6V0A4 protein, humanen
dc.subjectHigh-Throughput Nucleotide Sequencingen
dc.subjectATP6V1B1 protein, humanen
dc.subjectproton transporting adenosine triphosphate synthaseen
dc.titleMolecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutationsen
dc.description.endingpage748Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied SciencesΤμήμα Βιολογικών Επιστημών / Department of Biological Sciences
dc.description.notes<p>Cited By :5</p>en
dc.source.abbreviationGenet Test Mol Biomarkersen
dc.contributor.orcidConstantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

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