Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations
| العنوان: | Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations |
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| المؤلفون: | Nagara, Majdi, Voskarides, Konstantinos, Nouira, S., Ben Halim, N., Kefi Ben Atig, Rym, Aloulou, Hajer, 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., Constantinou-Deltas, Constantinos D., Abdelhak, S. |
| المساهمون: | Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Department of Pediatrics, Hedi Chaker Hospital [Sfax], Département de Pédiatrie, Unité des maladies métaboliques héréditaires, Hôpital La Rabta [Tunis], Department of Pediatrics, Sahloul Hospital, Sousse, Tunisia, Pediatric Department, Sahloul Hospital, Tahar Sfar Hospital, Troubles congénitaux et héréditaires, Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Normandie Université (NU), The study was supported by the Tunisian Ministry of Public Health and the Ministry of Higher Education and Scientific Research., Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] |
| المصدر: | Genetic Testing and Molecular Biomarkers Genetic Testing and Molecular Biomarkers, Mary Ann Liebert, Inc., 2014, 18 (11), pp.741-748. ⟨10.1089/gtmb.2014.0175⟩ Genetic testing and molecular biomarkers Genet Test Mol Biomarkers |
| سنة النشر: | 2014 |
| مصطلحات موضوعية: | Proband, Male, Vacuolar Proton-Translocating ATPases, Tunisia, ATP6V1B1 protein, human, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, Biology, high throughput sequencing, ATP6V0A4 protein, human, 03 medical and health sciences, 0302 clinical medicine, male, Distal renal tubular acidosis, Genotype, medicine, kidney tubule acidosis, Missense mutation, Humans, genetics, human, Gene, Genetics (clinical), 030304 developmental biology, Genetics, 0303 health sciences, High-Throughput Nucleotide Sequencing, clinical trial, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, General Medicine, Acidosis, Renal Tubular, Original Articles, case control study, medicine.disease, Molecular biology, Phenotype, Founder Effect, 3. Good health, female, founder effect, proton transporting adenosine triphosphate synthase, Case-Control Studies, Mutation, Sensorineural hearing loss, Female, mutation, Founder effect |
| الوصف: | 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. 18 741 748 Cited By :5 |
| تدمد: | 1945-0257 1945-0265 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4097a059cee463f17d7977e480d54200Test https://pubmed.ncbi.nlm.nih.gov/25285676Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4097a059cee463f17d7977e480d54200 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19450257 19450265 |
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