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Table 2 Genetic information and family history of 6 patients with SFTPC mutations

From: Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C 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