Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis.
Aneek Das BhowmikAshwin DalalAshwani TandonShagun AggarwalPublished in: The journal of obstetrics and gynaecology research (2018)
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.
Keyphrases
- early onset
- copy number
- late onset
- genome wide
- preterm birth
- single cell
- angiotensin converting enzyme
- angiotensin ii
- pregnancy outcomes
- magnetic resonance imaging
- high glucose
- circulating tumor
- intellectual disability
- cell free
- dna methylation
- clinical trial
- randomized controlled trial
- gene expression
- endothelial cells
- pregnant women
- bioinformatics analysis
- circulating tumor cells