Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.

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

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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.424CÂ >Â 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.

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Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.

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