Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families

Authors

  • Sofia Hussain Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-I-Azam University, Islamabad, Pakistan Author
  • Naureen Akhtar Department of Pediatric Nephrology, The Children’s Hospital and The Institute of Child Health, Lahore, Pakistan Author
  • Reem Qamar Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-I-Azam University, Islamabad, Pakistan Author
  • Naima Khan Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-I-Azam University, Islamabad, Pakistan Author
  • Muhammad Naeem Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-I-Azam University, Islamabad, Pakistan Author

Abstract

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.

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Published

2018-07-26

Issue

Section

BRIEF COMMUNICATION | Kidney diseases

How to Cite

Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families. (2018). Iranian Journal of Kidney Diseases, 12(4), 240-242. https://www.ijkd.org/index.php/ijkd/article/view/3804