dc.contributor.author |
Seymour, Heather
|
|
dc.contributor.author |
Feben, Candice
|
|
dc.contributor.author |
Nevondwe, Patracia
|
|
dc.contributor.author |
Kerr, Robyn
|
|
dc.contributor.author |
Spencer, Careni
|
|
dc.contributor.author |
Mudau, Maria Mabyalwa
|
|
dc.contributor.author |
Honey, E.M. (Engela)
|
|
dc.contributor.author |
Lombard, Zane
|
|
dc.contributor.author |
Krause, Amanda
|
|
dc.contributor.author |
Carstens, Nadia
|
|
dc.date.accessioned |
2024-01-30T04:53:45Z |
|
dc.date.available |
2024-01-30T04:53:45Z |
|
dc.date.issued |
2024-01 |
|
dc.description |
DATA AVAILABILITY STATEMENT : The variants described here were submitted to ClinVar and can be viewed under Organization ID 508172 or the ClinVar IDs recorded in Table 1. Data available on reasonable request from the corresponding author. |
en_US |
dc.description.abstract |
BACKGROUND : Cornelia de Lange Syndrome (CdLS) presents with a variable multi-systemic phenotype and pathogenic variants have been identified in five main genes. This condition has been understudied in African populations with little phenotypic and molecular information available.
METHODS AND RESULTS : We present a cohort of 14 patients with clinical features suggestive of CdLS. Clinical phenotyping was carried out and cases were classified according to the international consensus criteria. According to this criteria, nine patients had classical CdLS, one had non-classical CdLS and four presented with a phenotype that suggested molecular testing for CdLS. Each patient underwent mutation profiling using a targeted next generation sequencing panel of 18 genes comprising known and suspected CdLS causal genes. Of the 14 patients tested, pathogenic and likely pathogenic variants were identified in nine: eight variants in the NIPBL gene and one in the STAG1 gene.
CONCLUSIONS : 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. |
en_US |
dc.description.department |
Biochemistry |
en_US |
dc.description.department |
Genetics |
en_US |
dc.description.department |
Microbiology and Plant Pathology |
en_US |
dc.description.librarian |
hj2024 |
en_US |
dc.description.sdg |
SDG-03:Good heatlh and well-being |
en_US |
dc.description.sponsorship |
The National Research Foundation and the South African
Medical Research Council. |
en_US |
dc.description.uri |
http://www.wileyonlinelibrary.com/journal/mgg3 |
en_US |
dc.identifier.citation |
Seymour, H., Feben, C., Nevondwe, P., Kerr, R., Spencer, C., Mudau, M.,
Honey, E., Lombard, Z., Krause, A., & Carstens, N. (2024). Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype. Molecular Genetics & Genomic Medicine, 12(1), e2342. https://doi.org/10.1002/mgg3.2342. |
en_US |
dc.identifier.issn |
2324-9269 (online) |
|
dc.identifier.other |
10.1002/mgg3.2342 |
|
dc.identifier.uri |
http://hdl.handle.net/2263/94150 |
|
dc.language.iso |
en |
en_US |
dc.publisher |
Wiley |
en_US |
dc.rights |
© 2024 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License. |
en_US |
dc.subject |
Cornelia de Lange Syndrome (CdLS) |
en_US |
dc.subject |
Mutation profiling |
en_US |
dc.subject |
SDG-03: Good health and well-being |
en_US |
dc.title |
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype |
en_US |
dc.type |
Article |
en_US |