| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5423_5788del | p.Ile1809_Asp1930del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | del366b | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #26 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Multi-exon deletion (flanked pentamers found) | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA03STA F0065 I890 | Proband | Female | de novo | at birth | U.S.A |
| Phenotypic group | Disease |
| NA | Infantil MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | |
| C-Tricuspid valve prolapse | |
| O-Ectopia lentis | bilateral |
| O-Iridodonesis | |
| O-Myopia >3 diopters (1) | severe |
| S-Arachnodactyly (M) | |
| S-Characteristic facial appearance | |
| S-Increased body length | |
| S-Joint hypermobility (m) | |
| S-Joint limitations | mild |
| S-Muscular hypotonia | |
| S-Pectus excavatum moderate (m)(1) | |
| S-Reduced US/LS ratio <0.87 (M) | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 91 | 11710961 | Liu W, Schrijver I, Brenn T, Furthmayr H, Francke U. "Multi-exon deletions of the FBN1 gene in Marfan syndrome". BMC Med Genet. 2001;2(1):11. |