title: Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.
abstract: BACKGROUND
  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.
  
  
  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.
authors: Department of Pediatric Nephrology, Isfahan University of Medical Sciences, Esfahan, Iran. gheisari@med.mui.ac.ir.
authors: Alaleh
authors: A
authors: Gheissari
authors: Maryam
authors: M
authors: Harandavar
authors: Friedhelm
authors: F
authors: Hildebrandt
authors: Daniela A
authors: DA
authors: Braun
authors: Maryam
authors: M
authors: Sedghi
authors: Nastaran
authors: N
authors: Parsi
authors: Alireza
authors: A
authors: Merrikhi
authors: Yahya
authors: Y
authors: Madihi
authors: Farzaneh
authors: F
authors: Aghamohammadi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins; D005091:Exons; D005190:Family; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006720:Homozygote; D006801:Humans; D007492:Iran / Q000208:ethnology; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000151:congenital* / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D051436:Renal Insufficiency, Chronic / Q000209:etiology / Q000235:genetics*; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002148:Calmodulin-Binding Proteins; D003598:Cytoskeletal Proteins; C498171:IQCB1 protein, human; D008565:Membrane Proteins; C108725:NPHP1 protein, human