| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS30+1G>A (c.3838+1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #17 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Skipping of exon 30, in frame | 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 (%) | |||||
| TAGgtaagc |
| TAGataagc |
| -28 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CAN01TOR F0003 I01 | Proband | Male | de novo | at birth | 2 months | CANADA |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| C-Tricuspid valve prolapse |
| CF-Dolichocephaly |
| O-Iridodonesis |
| S-Arachnodactyly (M) |
| S-Increased body length |
| S-Joint limitations |
| S-Muscular hypotonia |
| S-Pectus carinatum (M)(2) |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 123 | - | Lo B, Maegawa GB, Satodia P, Whyte H, Sermer M, Hutchinson J, Wilson G, Gross G, Matyas G, Hinek A, Unger S, Chitayat D. "Neonatal Marfan syndrome: Report of two cases with unusual clinical findings". Am J Hum genet, 2004, October 26-30, Toronto, Canada, abstract 580. |