| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4703_4704dup | p.Ala1569LysfsX13 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCC | Ala | ins2a | Fs. | Stop at 1581 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#04 | conserved AA in TGFBP |
| 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 |
| ITA01FLO F0005 I04 | Proband | Female | de novo | 43 years old | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| CF-Retrognathia | |
| CNS-Lombosacral meningocele | |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-Chest deformity (unspecified) | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Reduced US/LS ratio <0.87 (M) | |
| S-Scoliosis > 20° (M)(1) | severe |
| SI-Other herniae | vertebral |
| SI-Significant striae atrophicae (m)(1) | |
| SI-Tendency to ecchymosis | |
| SI-Varicose veins |
| Reference ID | PubMed ID | Reference |
| 93 | 11453977 | Pepe G, Giusti B, Evangelisti L, Porciani MC, Brunelli T, Giurlani L, Attanasio M, Fattori R, Bagni C, Comeglio P, Abbate R, Gensini GF. "Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation". Clin Genet. 2001 Jun;59(6):444-50. |