title: Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.
abstract: 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,AGTR1andREN) 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 theRENgene 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.
authors.affiliation: Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: Mohamed H
authors.initials: MH
authors.lastname: Al-Hamed
authors.affiliation: Obstetrics and Gynecology Department, KFSH&RC, Riyadh, Saudi Arabia.
authors.forename: Wesam
authors.initials: W
authors.lastname: Kurdi
authors.affiliation: Obstetrics and Gynecology Department, KFSH&RC, Riyadh, Saudi Arabia.
authors.forename: Nada
authors.initials: N
authors.lastname: Alsahan
authors.affiliation: Obstetrics and Gynecology Department, KFSH&RC, Riyadh, Saudi Arabia.
authors.forename: Qaamariya
authors.initials: Q
authors.lastname: Ambosaidi
authors.affiliation: Obstetrics and Gynecology Department, KFSH&RC, Riyadh, Saudi Arabia.
authors.forename: Maha
authors.initials: M
authors.lastname: Tulbah
authors.affiliation: Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle, UK.
authors.forename: John A
authors.initials: JA
authors.lastname: Sayer
keywords: antenatal ultrasound scan; mutations; prenatal; renal tubular dysgenesis