Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

Uzma Abdullah; Muhammad Farooq; Ambrin Fatima; Wasima Tauseef; Yasra Sarwar; Mmh Nuri; Niels Tommerup; Shahid M. Baig

doi:10.1111/nep.13097

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

Uzma Abdullah, Muhammad Farooq, Ambrin Fatima, Wasima Tauseef, Yasra Sarwar, Mmh Nuri, Niels Tommerup, Shahid M. Baig

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

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.

Original language	English
Pages (from-to)	818-820
Number of pages	3
Journal	Nephrology
Volume	22
Issue number	10
DOIs	https://doi.org/10.1111/nep.13097
Publication status	Published - Oct 2017
Externally published	Yes

Keywords

Consanguineous
Exome
Foetal
Nephronophthisis
Pakistani

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10.1111/nep.13097

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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",

author = "Uzma Abdullah and Muhammad Farooq and Ambrin Fatima and Wasima Tauseef and Yasra Sarwar and Mmh Nuri and Niels Tommerup and Baig, {Shahid M.}",

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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

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SP - 818

EP - 820

JO - Nephrology

JF - Nephrology

IS - 10

ER -

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

Abstract

Keywords

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