Lookup NU author(s): Mohamed Al-Hamed,
Professor John Sayer
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).
© The Author 2016. Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disease affecting renal development before birth. RTD is manifested by anuria and severe hypotension resulting in oligohydramnios and birth defects known as Potter’s syndrome. Homozygous or compound heterozygous mutations in genes encoding components of the renin–angiotensin system (ACE, AGT, AGTR1 and REN) have been reported to cause RTD. A consanguineous family with a history of multiple stillbirths was investigated using prenatal ultrasound and molecular genetic analysis of an affected foetus. Prenatal ultrasound scan suggested RTD, and a novel homozygous frameshift mutation c.299_300delAA (p.Lys100Serfs*4) in the REN gene was identified by whole-exome sequencing, which segregated with parental DNA samples. RTD remains a rare but important cause of prenatal and perinatal death and may present with antenatally hyperechogenic kidneys.
Author(s): Al-Hamed MH, Kurdi W, Alsahan N, Ambosaidi Q, Tulbah M, Sayer JA
Publication type: Article
Publication status: Published
Journal: Clinical Kidney Journal
Print publication date: 01/12/2016
Online publication date: 01/07/2016
Acceptance date: 07/06/2016
Date deposited: 01/06/2018
ISSN (print): 2048-8505
ISSN (electronic): 2048-8513
Publisher: Oxford University Press
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