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Iranian Journal of Kidney Diseases، جلد ۹، شماره ۲، صفحات ۱۱۹-۰
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عنوان انگلیسی Gene Mutation Analysis in Iranian Children With Nephronophthisis: a Two-Center Study
چکیده انگلیسی مقاله Introduction. Nephronophthisis is of the most commonly inherited ciliopathies that leads to end-stage renal disease in children. The NPHP1 gene is the first identified gene responsible for nephronophthisis and related diseases. This study assessed mutations of the NPHP1 gene in 16 Iranian families with at least one member presenting features of nephronophthisis. Materials and Methods. Fifty-seven patients diagnosed with chronic kidney disease or end-stage renal disease were referred to Imam Hossein Children Hospital, in Isfahan, Iran. The gene analysis study was carried on 16 patients and their first-degree relatives (40 DNA samples) suspicious of having nephronophthisis. The NPHP1 deletion analysis was performed for exons 5, 7, and 20 of the NPHP1 gene. Results. The patients' median age was 15 years. The mean and median age of the first presentation was 10.06 ± 2.59 years and 10.5 years, respectively. A homozygous deletion was identified in the NPHP1 gene spanning at least from exon 5 to exon 20 in two families. High-throughput mutation analysis identified a homozygous truncating mutation (c.1504C>T, p.R502*) in the NPHP5 in 5 families. Conclusions. By combining NPHP1 deletion analysis with multiplex-polymerase-chain-reaction-based high-throughput mutation analysis we could identify the molecular disease-cause in 7 of 15 families from Iran. In 8 families, the molecular disease cause remained unknown.
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نویسندگان مقاله آلاله قیصری | alaleh gheissari


مریم harandavar | maryam harandavar


friedhelm hildebrandt | friedhelm hildebrandt


دانیلا a braun | daniela a braun


مریم صدقی | maryam sedghi


نسترن پارسی | nastaran parsi


علیرضا مریخی | alireza merrikhi


یحیی مدیحی | yahya madihi


فرزانه آقامحمدی | farzaneh aghamohammadi


نشانی اینترنتی http://www.ijkd.org/index.php/ijkd/article/view/1713
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده ORIGINAL | Kidney Diseases
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