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Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family

Lookup NU author(s): Mohamed Al-Hamed, Professor John SayerORCiD



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.

Publication metadata

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

Year: 2016

Volume: 9

Issue: 6

Pages: 807-810

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


DOI: 10.1093/ckj/sfw057


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JAS is supported by the Northern Counties Kidney Research Fund and the Medical Research Council (MR/M012212/1).