He was diagnosed with Marfan syndrome (MFS) based on the revised Ghent criteria and then underwent <i>FBN1</i> sequencing and deletion/duplication analysis, which detected a novel pathogenic variant in gene <i>FBN1</i>, denoted by c.5872 T>A (p.Cys1958Ser). This evidence concerns the gene FBN1 and Marfan syndrome.