Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families

Iran J Kidney Dis. 2018 Jul;12(4):240-242.


Nephronophthisis is an autosomal recessive cystic kidney disease characterized by tubular interstitial infiltration, periglomerular fibrosis, and cysts, and is the most frequent genetic cause of end-stage renal disease in children. Nephronophthisis is pleiotropic as almost all the causative genes are involved in primary cilium and centrosome function which are found in almost all human cells. Genetic heterogeneity in nephronophthisis makes the molecular and genetic diagnosis somewhat difficult. Homozygous deletions in the nephronophthisis 1 (NPHP1) gene are the major contributor of nephronophthisis cases, while other genes accounts for less than 3% each. Nephronophthisis-related ciliopathy is a term used for extrarenal symptoms in addition to nephronophthisis. Herein, we are reporting the molecular study of 7 children from independent families fulfilling the criteria of nephronophthisis. A deletion analysis of the NPHP1 gene was performed in each case, and NPHP5 mutation screening was performed in the absence of such deletion in patients with Senior Loken syndrome.

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Calmodulin-Binding Proteins / genetics*
  • Ciliopathies / complications
  • Ciliopathies / diagnosis
  • Ciliopathies / genetics*
  • Codon, Nonsense*
  • Cytoskeletal Proteins
  • Disease Progression
  • Female
  • Gene Deletion*
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Kidney Diseases, Cystic / complications
  • Kidney Diseases, Cystic / congenital*
  • Kidney Diseases, Cystic / diagnosis
  • Kidney Diseases, Cystic / genetics
  • Leber Congenital Amaurosis / complications
  • Leber Congenital Amaurosis / diagnosis
  • Leber Congenital Amaurosis / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Optic Atrophies, Hereditary / complications
  • Optic Atrophies, Hereditary / diagnosis
  • Optic Atrophies, Hereditary / genetics*
  • Pakistan
  • Pedigree
  • Phenotype


  • Adaptor Proteins, Signal Transducing
  • Calmodulin-Binding Proteins
  • Codon, Nonsense
  • Cytoskeletal Proteins
  • IQCB1 protein, human
  • Membrane Proteins
  • NPHP1 protein, human

Supplementary concepts

  • Nephronophthisis, familial juvenile
  • Senior Loken Syndrome