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 |
