| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3603_3668del | p.Ser1202_Cys1223del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | del66c | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #15 | Disulfide bonds 1201-1212 (C1) |
| At the mRNA level | On restriction map |
| Deletion flanked by direct repeats | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0021 I01 | Proband | NA | NA | at birth | 3 months | FINLAND |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| C-Pulmonary art. dilatation | mild |
| C-Tricuspid valve prolapse | |
| CF-Dolichocephaly | |
| CF-Micrognathia | |
| O-Myopia | |
| S-Abnormal ears | |
| S-Arachnodactyly (M) | |
| S-Camptodactyly | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Joint limitations | |
| S-Muscular hypotonia |
| Reference ID | PubMed ID | Reference |
| 61 | 10441700 | Weidenbach M, Brenner R, Rantamaki T, Redel DA. "Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene". Pediatr Cardiol 1999 Sep-Oct;20(5):382-5. |