Exome sequencing identifies novel ACE splice‐site variant in a fetus with renal tubular dysgenesis. Issue 12 (29th July 2018)

• Record Type: Journal Article
• Authors: Das Bhowmik, Aneek; Dalal, Ashwin; Tandon, Ashwani; Aggarwal, Shagun
• Is Part Of: Journal of obstetrics and gynaecology research. Volume 44:Issue 12(2018)
• Page Start: 2181
• Page End: 2185
• Publication Date: 2018-07-29
• Subjects: ACE gene -- exome sequencing -- fetal autopsy -- neonatal death -- renal tubular dysgenesis; Gynecology -- Periodicals; Obstetrics -- Periodicals; 618.1005
• DOI: 10.1111/jog.13771
• Languages: English
• ISSNs: 1341-8076

Abstract

Abstract: We report a 32‐week fetus conceived of consanguineous parentage which presented with severe early onset oligohydramnios and history of a similarly affected sibling in previous pregnancy. Ultrasonography and autopsy were inconclusive, prompting exome sequencing on fetal DNA. This resulted in identification of a homozygous novel 3′ splice‐site variation in intron 17 of the ACE gene (NM_000789.3:c.2642‐1G>A), confirming diagnosis of autosomal recessive renal tubular dysgenesis, and facilitating prenatal diagnosis in subsequent pregnancy.