Case Report: FBN1 mutation screening in South African patients with Marfan syndrome
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 presentati...
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Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1612411/full |
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| author | F. Mhlongo C. Feben A. Krause N. Carstens N. Carstens |
| author_facet | F. Mhlongo C. Feben A. Krause N. Carstens N. Carstens |
| author_sort | F. Mhlongo |
| collection | DOAJ |
| description | 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 FBN1-based mutation testing, especially in children and for prognostic purposes. |
| format | Article |
| id | doaj-art-271f86765f9f4dedaeff45b23d81ac0c |
| institution | Kabale University |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-271f86765f9f4dedaeff45b23d81ac0c2025-08-20T03:32:58ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-07-011610.3389/fgene.2025.16124111612411Case Report: FBN1 mutation screening in South African patients with Marfan syndromeF. Mhlongo0C. Feben1A. Krause2N. Carstens3N. Carstens4Division of Human Genetics, National Health Laboratory Service & School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South AfricaDivision of Human Genetics, National Health Laboratory Service & School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South AfricaDivision of Human Genetics, National Health Laboratory Service & School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South AfricaDivision of Human Genetics, National Health Laboratory Service & School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South AfricaGenomics Centre, South African Medical Research Council, Cape Town, South AfricaMarfan 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 FBN1-based mutation testing, especially in children and for prognostic purposes.https://www.frontiersin.org/articles/10.3389/fgene.2025.1612411/fullMarfan syndromeunderstudied populationsmolecular confirmationFBN1 genegenetic diagnostics in Africacase series |
| spellingShingle | F. Mhlongo C. Feben A. Krause N. Carstens N. Carstens Case Report: FBN1 mutation screening in South African patients with Marfan syndrome Frontiers in Genetics Marfan syndrome understudied populations molecular confirmation FBN1 gene genetic diagnostics in Africa case series |
| title | Case Report: FBN1 mutation screening in South African patients with Marfan syndrome |
| title_full | Case Report: FBN1 mutation screening in South African patients with Marfan syndrome |
| title_fullStr | Case Report: FBN1 mutation screening in South African patients with Marfan syndrome |
| title_full_unstemmed | Case Report: FBN1 mutation screening in South African patients with Marfan syndrome |
| title_short | Case Report: FBN1 mutation screening in South African patients with Marfan syndrome |
| title_sort | case report fbn1 mutation screening in south african patients with marfan syndrome |
| topic | Marfan syndrome understudied populations molecular confirmation FBN1 gene genetic diagnostics in Africa case series |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2025.1612411/full |
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