Table 2.
Genetic information and family history of 6 patients with SFTPC mutations
| Patient | Mutation | De novo or inherited | SIFT/polyphen2 | Family history |
|---|---|---|---|---|
| 1 | c.218 T > C, p.I73T | Father I73T | Damaging/damaging | No |
| 2 | c.218 T > C, p.I73T |
Mother I73T Brother I73T |
Damaging/damaging | Yes (brother diagnosed ILD at 1 years) |
| 3 | c.337 T > C, p.Y113H | De novo | Damaging/damaging | No |
| 4 | c.218 T > C, p.I73T | De novo | Damaging/damaging | No |
| 5 | c.314A > G, p.D105G |
Father D105G Sister D105G |
Damaging/damaging | No |
| 6 | c.218 T > C, p.I73T | De novo | Damaging/damaging | No |