| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8155_8174del | p.Lys2719ThrfsX12 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | del20a | Fs. | Stop at 2730 | 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 |
| AUS02WES F0065 I0001 | Proband | Male | de novo | 0 | IRELAND |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Severity | Age |
| CF-Down-slanting palpebral fissures | 6 | |
| CF-Proptosis | 6 | |
| CF-Retrognathia | 6 | |
| O-Ectopia lentis | bilateral | 16 |
| O-Lens extraction | 16 | |
| O-Myopia | 6 | |
| S-Arachnodactyly (M) | 6 | |
| S-Crowding teeth (m) | 6 | |
| S-High arched palate | 6 | |
| S-Pectus excavatum moderate (m)(1) | 6 | |
| S-Plain pes planus (M)(1) | 6 | |
| SI-Easy bruising | ||
| SI-Translucent skin | facial | 6 |
| Reference ID | PubMed ID | Reference |
| 221 | 21594992 | Goldblatt J, Hyatt J, Edwards C, Walpole I. "Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene". Am J Med Genet A. 2011 Apr;155A(4):717-20. |