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

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

Uzma Abdullah  1 , Muhammad Farooq  2   3 , Ambrin Fatima  1 , Wasima Tauseef  4 , Yasra Sarwar  1 , Mmh Nuri  5 , Niels Tommerup  3 , Shahid M Baig  1
Affiliations
Review

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

Uzma Abdullah et al. Nephrology (Carlton). 2017 Oct.

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.

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