article · Molecular Genetics & Genomic Medicine

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

Heather Seymour
Careni Spencer
Candice Feben
Robyn Kerr
Maria Mudau
Zané Lombard
Amanda Krause
Patracia Nevondwe
Engela Honey
Nadia Carstens

20246 citationsOpen accessUniversity of the Witwatersrand

Abstract

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.

Research topics

Genomics and Chromatin Dynamics
Cancer-related gene regulation
RNA modifications and cancer

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DOI: 10.1002/mgg3.2342

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