Case Report: Marfan Syndrome

Resumen

Marfan syndrome (MFS) is a heritable disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1). MFS is rare and the most severe form of MFS, involving rapidly progressive cardiovascular dysfunction leading to death during early childhood. The constant enrichment of the MFS mutation spectrum is helpful to improve our understanding of genotype–phenotype correlations in the disease. Our patient carries a de novo variant of FBN1, homozygous c.1415 G > A (C472Y), heterozygous 1875 T > C (N625), heterozygous IVS 17-46 A > G, IVS 35-19 A > G, IVS 40-13_14insT, IVS 45+28_29insT, IVS 51-85 T > C, IVS 53-21 A > T, heterozygous 6855 T > C (D2285), homozygous IVS 56+17 C > G, homozygous IVS 60-113 C > A, heterozygous IVS 62 + 8 A > C. There is a case report in which a patient is diagnosed with missense variant S713G, this sequence analysis also identified a heterozygous 6289 G > T nucleotide change in the FBN1 gene of this individual. At this time, there is not sufficient information to classify this allele as a disease-associated mutation or a benign variant not associated with disease