Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

Nephrology (Carlton). 2017 Oct;22(10):818-820. doi: 10.1111/nep.13097.

Abstract

We present a case of a foetal sonographic finding of hyper-echogenic kidneys, which led to a strategic series of genetic tests and identified a homozygous mutation (c.424C > T, p. R142*) in the NPHP3 gene. Our study provides a rare presentation of NPHP3-related ciliopathy and adds to the mutation spectrum of the gene, being the first one from Pakistani population. With a thorough literature review, it also advocates for molecular assessment of ciliopathies to improve risk estimate for future pregnancies, and identify predisposed asymptomatic carriers.

Keywords: Consanguineous; Exome; Foetal; Nephronophthisis; Pakistani.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abortion, Induced
  • Adult
  • Ciliopathies / diagnostic imaging
  • Ciliopathies / genetics*
  • Codon, Nonsense*
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Gestational Age
  • Homozygote*
  • Humans
  • Kidney Diseases, Cystic / diagnostic imaging
  • Kidney Diseases, Cystic / genetics*
  • Kinesins / genetics*
  • Phenotype
  • Pregnancy
  • Ultrasonography, Prenatal

Substances

  • Codon, Nonsense
  • nephrocystin-3, human
  • Kinesins