Table 2.
Clinical Data and Variants identified in suspected Marfan syndrome patients.
| Family | Cardiova-scular | Skeletal | ectopia lentis | Dural ectasia | skin | lung | Z score | System-ic score | Family History (Y/N) | Fulfill Ghent Criteria before genetic test (Y/N) | Gene | Classification |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TAAD003 | + | + | − | − | − | − | 12.91 | 5 | N | N | FBN1 | Likely patho |
| TAAD005 | + | + | + | − | − | − | 11.11 | ≥7 | N | Y | FBN1 | VUS |
| TAAD013 | + | + | + | − | − | − | 8.87 | ≥7 | N | Y | FBN1 | Likely patho |
| TAAD020 | + | + | − | − | + | − | 24.44 | ≥7 | Y | Y | FBN1 | VUS |
| TAAD023 | + | + | − | − | − | + | 22.06 | ≥7 | N | Y | FBN1 | VUS |
| TAAD024 | + | + | − | − | − | + | 18.11 | 4 | N | N | FBN1 | Patho |
| TAAD036 | + | + | + | − | − | − | 15.83 | ≥7 | Y | Y | FBN1 | VUS |
| TAAD038 | + | + | − | − | − | − | 4.92 | 5 | N | N | FBN1 | Likely patho |
| TAAD039 | + | + | + | + | − | − | 4.47 | ≥7 | Y | Y | FBN1 | VUS |
| TAAD045 | + | + | − | − | − | − | 14.19 | 4 | Y | Y | FBN1 | Likely patho |
| TAAD046 | + | + | + | − | − | + | 4.01 | ≥7 | Y | Y | FBN1 | VUS |
| TAAD056 | + | + | + | − | − | − | 8.54 | ≥7 | N | Y | FBN1 | Patho |
| TAAD068 | + | + | + | − | − | − | 9.48 | 6 | Y | Y | FBN1 | Likely patho |
| TAAD069 | + | + | + | − | − | − | 6.16 | 5 | Y | Y | FBN1 | Likely patho |
| TAAD070 | + | + | + | − | − | − | 7.02 | 6 | Y | Y | FBN1 | VUS |
+:positive, −;negative; Patho: pathogenic; VUS: variants of uncertain significance.