| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8155_8156delAA | p.Lys2719AspfsX18 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | del2a | Fs. | Stop at 2736 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0072 I0001 | Proband | Female | NA | GERMANY |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 12 | |
| C-Mitral valve prolapse | mild | 12 |
| CF-Retrognathia | 25 | |
| CNS-Lumbosacral dural ectasia | 27 | |
| O-Ectopia lentis | bilateral | 13 |
| O-Lens extraction | bilateral | 16 |
| O-Myopia >3 diopters (1) | severe | 10 |
| S-Arachnodactyly (M) | 25 | |
| S-High arched palate | 10 | |
| S-Joint hypermobility (m) | finger | 25 |
| S-Kyphosis | mild | 25 |
| SI-Soft skin | 25 | |
| SI-Stiff skin | 25 | |
| SI-Translucent skin | 25 |
| Reference ID | PubMed ID | Reference |
| 218 | 20979188 | Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E. "Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene". Am J Med Genet A. 2010 Nov;152A(11):2749-55. |