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Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

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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.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.

OriginalsprogEngelsk
TidsskriftNephrology
Vol/bind22
Udgave nummer10
Sider (fra-til)818-820
Antal sider3
ISSN1320-5358
DOI
StatusUdgivet - okt. 2017

ID: 187626314