Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations

Majdi Nagara; Konstantinos Voskarides; Sonia NouiraNizar Ben HalimRym KefiHajer AloulouLilia RomdhaneRim Ben AbdallahFaten Ben RhoumaKhaoula AissaLamia BoughamouraThouraya KammounHatem AzzouzSaoussen AbrougHathemi Ben TurkiaAbdelkarim AyadiRidha MradImen ChabchoubMongia HachichaJalel ChemliConstantinos DeltasSonia Abdelhak

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Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations

机译：远端肾小管的分子调查在突尼斯酸中毒,创始人的证据突变

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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.

机译：远端肾小管酸中毒(dRTA)是一种罕见的在不同的基因疾病引起的突变基因的分泌H +离子的间收集管的细胞。常染色体显性和隐性的形式描述;感音神经性听力损失。突尼斯家庭变异进行了分析通过直接ATP6V1B1和ATP6V0A4基因测序。执行。在16/27 dRTA情况下ATP6V1B1基因被发现。p.Ile386Hisfs * 56创始人变异估计2400岁以上的年,没有相关性被发现与耳聋。病人,两个ATP6V0A4基因的突变,一个他们的小说,被发现在三个突尼斯用例。ATP6V1B1基因,突变p.T30I发现在六个病人,虽然没有突变的第二个基因被发现。突变ATP6V1B1或ATP6V0A发现两个渊源者。表型和基因型的证据在突尼斯dRTA人口的异质性。五个不同的突变被发现,其中两个由于奠基者效应,筛选吗这些突变可能会提供一个快速和dRTA诊断的有价值的工具。

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《Genetic testing and molecular biomarkers》 |2014年第11期|741-748|共8页
作者
Majdi Nagara; Konstantinos Voskarides; Sonia NouiraNizar Ben HalimRym KefiHajer AloulouLilia RomdhaneRim Ben AbdallahFaten Ben RhoumaKhaoula AissaLamia BoughamouraThouraya KammounHatem AzzouzSaoussen AbrougHathemi Ben TurkiaAbdelkarim AyadiRidha MradImen ChabchoubMongia HachichaJalel ChemliConstantinos DeltasSonia Abdelhak;
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作者单位

Biomedical Genomics and Oncogenetics Laboratory LR11IPT05, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia;

Laboratory of Molecular and Medical Genetics, Molecular Medicine Research Center, Nicosia, Cyprus;

Pediatric Department, Hédi Chaker Hospital, Sfax, TunisiaInherited Metabolic Diseases Unit, Pediatric Department, La Rabta Hospital, Tunis, TunisiaPediatric Department, Sahloul Hospital, Sousse, TunisiePediatric Department, Tahar Sfar Hospital, Mahdia, TunisiaCongenital & Hereditary Disorders, Charles Nicolle Hospital, Tunis, Tunisia;

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正文语种英语
中图分类 Q-028;
关键词
Type I Renal Tubular Acidosis; ATP6V1B1 gene; TunisiaMutationFounder Mutationfounder effect;

机译：I型肾小管酸中毒;ATP6V1B1基因;TunisiaMutationFounder Mutationfounder效果;

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Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations

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