Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.

Heather SeymourCandice FebenPatracia NevondweRobyn KerrCareni SpencerMaria MudauEngela HoneyZane LombardAmanda KrauseNadia Carstens

Published in: Molecular genetics & genomic medicine (2024)

We present the first molecular data for a cohort of South African patients with CdLS. Eight of the nine variants identified were in the NIPBL gene, the most commonly involved gene in cases of CdLS. This is also the first report of a patient of African ancestry presenting with STAG1-related CdLS.

Keyphrases

copy number
case report
genome wide
electronic health record
single cell
big data
gene expression
single molecule
artificial intelligence
data analysis