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" Gene mutations analysis in Iranian children with Nephronophthisis: a two-Center Study "
/مریم هرندآور
; Alaleh Gheisari
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Isfahan University of Medical Sciences
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| Document Type
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Latin Dissertation
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| Language of Document
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English
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| Record Number
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103443
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| Doc. No
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T14975
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| Call number
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WJ,358,H254g,2014
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| Main Entry
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Harandavar, Maryam
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| Title & Author
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Gene mutations analysis in Iranian children with Nephronophthisis: a two-Center Study/مریم هرندآور
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| College
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Schools, Medical
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| Date
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, 2014
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| Degree
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Pediatrics, Speciality
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24 p.: tab
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| Note
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This is a research dissertation with project ID: 393016
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| Abstract
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Nephronophthisis (NPHP) is the most inherited ciliopathies that leads to end stage renal disease in children. NPHP1 gene is the first identified gene among at least 12 genes responsible for NPHP and related diseases. However, there is no study on children with chronic kidney diseases in Iran to evaluate NPHP1 mutations. In this study, we assessed the mutations of NPHP1 gene in 16 families with at least one member presenting features of NPHP. Method: From December 2011 to January 2013, 57 patients diagnosed as either chronic kidney diseases (CKD) or ESRD were referred to Imam Hossein Children Hospital, Isfahan, Iran. The gene analysis study was carried on 16 patients and their first-degree relatives (40 DNA samples) suspicious of having nephronophthisis (NPHP). NPHP1 deletion analysis was performed for exon 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. NPHP1 deletion analysis identified a homozygous deletion in the NPHP1 gene spanning at least from exon 5 to exon 20 in families 008 and 012. High-throughput mutation analysis identified a homozygous truncating mutation (c.1504C>T, p.R502*) in NPHP5 (IQCB1) in 5 families (B, C, D, F, G). Conclusion: By combining NPHP1 deletion analysis with multiplex-PCR based high-throughput mutation analysis we could identify the molecular disease-cause in 7 out of 15 families from Iran. In 8 families the molecular disease cause remained unknown..
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| Descriptor
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1. Kidney Diseases, Cystic.- Descriptors: Kidney Diseases, Cystic
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Mutation
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Child
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Suppression, Genetic
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| Added Entry
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Gheisari, Alaleh, Supervisor
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