Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

Uzma Abdullah, Muhammad Farooq, Ambrin Fatima, Wasima Tauseef, Yasra Sarwar, Mmh Nuri, Niels Tommerup, Shahid M. Baig

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)818-820
Number of pages3
Issue number10
Publication statusPublished - Oct 2017
Externally publishedYes


  • Consanguineous
  • Exome
  • Foetal
  • Nephronophthisis
  • Pakistani


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