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Exome sequencing identifies novel ACE splice‐site variant in a fetus with renal tubular dysgenesis
Author(s) -
Das Bhowmik Aneek,
Dalal Ashwin,
Tandon Ashwani,
Aggarwal Shagun
Publication year - 2018
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/jog.13771
Subject(s) - exome sequencing , medicine , oligohydramnios , fetus , prenatal diagnosis , splice site mutation , dysgenesis , exome , pregnancy , intron , mutation , genetics , gene , rna splicing , anatomy , biology , rna
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.