| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8206dup | p.Thr2736AsnfsX2 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACT | Thr | ins1b | Fs. | Stop at 2737 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif |
| At the mRNA level | On restriction map |
| Duplication in a stretch of nucleotides | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA22DAL F0001 I0001 | Proband | Female | NA | 0 | U.S.A. |
| Phenotypic group | Disease |
| NA | Marfanoid Neonatal Progeroid Syndrome |
| Symptom | Severity | Age |
| CF-Dolichocephaly | 8 | |
| CF-Proptosis | 16 | |
| CF-Retrognathia | 16 | |
| CF-Upward slanting palpebral fissures | ||
| O-Ectopia lentis | left | 8 |
| O-Glaucoma | left eye | 8 |
| O-Lens extraction | 17 | |
| O-Myopia >3 diopters (1) | 4 | |
| O-Myopic macular degeneration | 17 | |
| S-Abnormal ears | ||
| S-Arachnodactyly (M) | 16 | |
| S-Crowding teeth (m) | 16 | |
| S-Foot deformity | 16 | |
| S-High arched palate | 16 | |
| S-Joint hypermobility (m) | 16 | |
| S-Joint limitations | fingers, knees and toes | |
| S-Protusio acetabulæ (M)(2) | bilateral | 16 |
| S-Reduced extension of the elbows (<170°)(M)(1) | 16 | |
| S-Scoliosis > 20° (M)(1) | thoracic | 16 |
| S-Scoliosis > 20° (M)(1) | lumbar | 16 |
| Reference ID | PubMed ID | Reference |
| 283 | 24665001 | Garg A, Xing C. "De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy". Am J Med Genet A. 2014 May;164(5):1341-5. |