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Das Bhowmik, A. and Dalal, Ashwin and Tandon, A. and Aggarwal, Shagun (2018) Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis. Journal of Obstetrics and Gynaecology Research, 44 (12). pp. 2181-2185. ISSN 1341-8076

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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.

Item Type: Article
Uncontrolled Keywords: ACE gene; exome sequencing; fetal autopsy; neonatal death; renal tubular dysgenesis
Depositing User: Dr P Divakar
Date Deposited: 11 Aug 2018 11:00
Last Modified: 27 Dec 2018 19:25
URI: http://cdfd.sciencecentral.in/id/eprint/859

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