| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS64+1G>T (c.8226+1G>T) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | spl+1 | Spl. | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif |
| At the mRNA level | On restriction map |
| Not tested on cDNA | New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| GAGgtgggt |
| GAGttgggt |
| -30.2 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA22DAL F0002 I0001 | Proband | Female | NA | 10 | U.S.A. |
| Phenotypic group | Disease |
| NA | Marfanoid Neonatal Progeroid Syndrome |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 17 | |
| C-Mitral valve prolapse | 17 | |
| CF-Down-slanting palpebral fissures | 10 | |
| CF-Proptosis | 17 | |
| CF-Retrognathia | 17 | |
| O-Astigmatism | 10 | |
| O-Iridodonesis | 17 | |
| O-Myopia >3 diopters (1) | 10 | |
| S-Arachnodactyly (M) | 17 | |
| S-Joint hypermobility (m) | 17 | |
| S-Joint limitations | ankle, knee and elbow | 10 |
| S-Pectus excavatum moderate (m)(1) | 17 | |
| S-Plain pes planus (M)(1) | 17 | |
| S-Reduced extension of the elbows (<170°)(M)(1) | 17 | |
| S-Reduced US/LS ratio <0.87 (M) | 17 | |
| S-Scoliosis > 20° (M)(1) | 17 | |
| Se-Hearing loss | mild | 17 |
| 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. |