CASE REPORT article
Front. Genet.
Sec. Human and Medical Genomics
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1612411
This article is part of the Research TopicAdvances in molecular genetics of Marfan syndrome and related disordersView all 3 articles
FBN1 Mutation Screening in South African Patients with Marfan syndrome
Provisionally accepted
- 1Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
- 2South African Medical Research Council, Cape Town, South Africa
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Marfan syndrome (MFS) is a systemic heritable connective tissue disorder caused by pathogenic variants in the FBN1 gene. Previous studies have documented the clinical utility of FBN1 mutation screening as some nucleotide changes and functional domains are associated with specific clinical presentations, many of which are age dependent. However, molecular testing has not been incorporated into routine clinical service for MFS in South Africa. Here we present clinical phenotypes and molecular confirmation of MFS in a cohort of South African patients.Mutation screening using a targeted next-generation sequencing (NGS) panel identified seven heterozygous likely pathogenic and/or pathogenic FBN1 variants in eleven South African patients with MFS. Two of these variants are novel. This study thus contributes to the description of the mutation spectrum of MFS in Africa and highlights the diagnostic utility and importance of FBN1based mutation testing, especially in children and for prognostic purposes.
Keywords: Marfan Syndrome, Understudied Populations, Molecular confirmation, FBN1 gene; genetic diagnostics in Africa, case series
Received: 15 Apr 2025; Accepted: 16 Jun 2025.
Copyright: © 2025 Mhlongo, Feben, Krause and Carstens. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Nadia Carstens, South African Medical Research Council, Cape Town, South Africa
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.