Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. Issue 10 (October 2017)

• Record Type: Journal Article
• Authors: Abdullah, Uzma; Farooq, Muhammad; Fatima, Ambrin; Tauseef, Wasima; Sarwar, Yasra; Nuri, Mmh; Tommerup, Niels; Baig, Shahid M.
• Is Part Of: Nephrology. Volume 22:Issue 10(2017)
• Page Start: 818
• Page End: 820
• Publication Date: 2017-10
• Subjects: Consanguineous -- Exome -- Foetal -- Nephronophthisis -- Pakistani; Nephrology -- Periodicals; Kidneys -- Diseases -- Periodicals; Nephrologists -- Periodicals; 616.61; 616.61
• DOI: 10.1111/nep.13097
• Languages: English
• ISSNs: 1320-5358

Abstract

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.