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
genome wide identification
electronic health record
big data
dna methylation
gene expression
data analysis
deep learning