Table 1. Type of MFS presentations by exon, in the exons 24–32 region.
Exons | |||||||||
---|---|---|---|---|---|---|---|---|---|
Type of presentation | 24 (n=29) | 25 (n=28) | 26 (n=25) | 27 (n=35) | 28 (n=20) | 29 (n=11) | 30 (n=23) | 31 (n=8) | 32 (n=19) |
Neonatal MFS | 10% | 57% | 28% | 11% | 5% | 27% | 13% | 25% | 21% |
Severe MFS | 10% | 11% | 4% | 11% | 30% | 18% | 17% | 0% | 4% |
Classical MFS | 53% | 11% | 40% | 40% | 45% | 45% | 57% | 75% | 53% |
Probable MFS | 17% | 11% | 12% | 9% | 5% | 10% | 9% | 0% | 16% |
Type I fibrillinopathy | 10% | 10% | 16% | 29% | 15% | 0% | 4% | 0% | 6% |
P Fisher | 0.365 | <0.001 | 0.628 | 0.046 | 0.052 | 0.738 | 0.428 | 0.475 | 0.655 |