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CASE REPORT article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1549504
This article is part of the Research Topic Advances in molecular genetics of Marfan syndrome and related disorders View all articles
A Novel Missense Variant of FBN1 Gene in a Sardinian Family with Marfan Syndrome: a Case Report
Provisionally accepted
Marina Marsan 1*
Mattia Brutti 1*
Francesca Meloni 1 Monica Marica 1 Consolata Soddu 1 Francesco Lai 2
Davide Martorana 3
Salvatore Savasta 4- 1 Pediatric Clinic and Rare Diseases, “Microcitemico Hospital”, Cagliari, Italy
- 2 Unit of Oncology and Molecular Pathology, Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy
- 3 Medical Genetics Unit, University Hospital of Parma, Parma, Italy
- 4 Pediatric Clinic and Rare Diseases, “Microcitemico Hospital”, Department of Medical Science and Public Health, University of Cagliari, Cagliari, Italy
focuses on a new missense variant on exon 20 of FBN1 gene, found in a pediatric patient who had already been diagnosed with Marfan Syndrome based on her clinical features. The discovery of this new novel gene variant allowed other family members (children and adults) to be diagnosed as well -despite having less severe clinical manifestations -and then to start their own periodic cardiological, orthopedic and ophthalmic follow up. This manuscript would contribute to eventually finding typical genotype-phenotype correlations.
Keywords: case report, FBN1, Marfan Syndrome, Novel variant, Pediatrics
Received: 21 Dec 2024; Accepted: 21 Feb 2025.
Copyright: © 2025 Marsan, Brutti, Meloni, Marica, Soddu, Lai, Martorana and Savasta. 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:
Marina Marsan, Pediatric Clinic and Rare Diseases, “Microcitemico Hospital”, Cagliari, Italy
Mattia Brutti, Pediatric Clinic and Rare Diseases, “Microcitemico Hospital”, Cagliari, Italy
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