Premium
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis
Author(s) -
Abdullah Uzma,
Farooq Muhammad,
Fatima Ambrin,
Tauseef Wasima,
Sarwar Yasra,
Nuri Mmh,
Tommerup Niels,
Baig Shahid M.
Publication year - 2017
Publication title -
nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.752
H-Index - 61
eISSN - 1440-1797
pISSN - 1320-5358
DOI - 10.1111/nep.13097
Subject(s) - ciliopathies , ciliopathy , medicine , nephronophthisis , mutation , asymptomatic , population , genetics , presentation (obstetrics) , gene , pediatrics , obstetrics , pathology , biology , environmental health , phenotype
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.