Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

TY - JOUR

T1 - Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

AU - Abdullah, Uzma

AU - Farooq, Muhammad

AU - Fatima, Ambrin

AU - Tauseef, Wasima

AU - Sarwar, Yasra

AU - Nuri, Mmh

AU - Tommerup, Niels

AU - Baig, Shahid M.

PY - 2017/10

Y1 - 2017/10

N2 - 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.

AB - 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.

KW - Consanguineous

KW - Exome

KW - Foetal

KW - Nephronophthisis

KW - Pakistani

U2 - 10.1111/nep.13097

DO - 10.1111/nep.13097

M3 - Journal article

C2 - 28921755

AN - SCOPUS:85029774268

SN - 1320-5358

VL - 22

SP - 818

EP - 820

JO - Nephrology

JF - Nephrology

IS - 10

ER -