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[Mutation c.3037G>A in the FBN1 gene associated with neonatal Marfan syndrome variant]
F Cammarata-Scalisi1, R Capolino2, M Magliozzi3
1Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela.
Abstract:
Marfan syndrome ([MS], OMIM 154700) is a connective tissue disorder that exhibits an autosomal dominant pattern of inheritance, whose clinical characteristics can affect multiple systems or organs in a variable way. It is caused by mutations in the FBN1 gene (OMIM 134797) located at 15q21.1. Neonatal MS is an uncommon variety of the entity associated with missense mutation between exons 23-33 and truncating mutations, exhibits a more severe phenotype and high percentage of mortality in the first years of life. The case of male adolescent with neonatal MS and missense mutation (c.3037G> A; p.Gly225Arg) in exon 24 of the FBN1 gene is presented. Given these findings, interfamilial phenotype variation, the early interdisciplinary medical evaluation necessary for the management of possible complications, as well as the appropriate family genetic counseling were studied.
Insights
Marfan syndrome is a genetic connective tissue disorder. This case highlights neonatal Marfan syndrome in an adolescent with a specific FBN1 gene mutation, emphasizing variable presentation and management needs.
Area of Science:
- Genetics
- Molecular Biology
- Medical Genetics
Background:
- Marfan syndrome (MS) is an autosomal dominant connective tissue disorder caused by FBN1 gene mutations.
- Neonatal MS is a severe variant with high early mortality, often linked to specific mutation types.
Observation:
- Presents a case of an adolescent male with neonatal Marfan syndrome.
- Identified a missense mutation (c.3037G>A; p.Gly225Arg) in exon 24 of the FBN1 gene.
Findings:
- Demonstrates interfamilial phenotype variability in Marfan syndrome.
- Highlights the specific FBN1 mutation's role in neonatal MS presentation.
Implications:
- Underscores the necessity for early, interdisciplinary evaluation for MS complications.
- Stresses the importance of genetic counseling for families affected by Marfan syndrome.
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