Figure 1

Pedigrees of families with TERT mutations. Mutation positive individuals are indicated by a “+” sign. Dx = Age at diagnosis of pulmonary fibrosis. A) Novel TERT variant: c.2648 T > G (p.Phe883Cys) segregates with the disease. B) Novel TERT variant: c.1892 G > A (p.Arg631Gln) segregates with disease. C) Previously reported pathogenic TERT mutation: c.2594 G > A (p.Arg865His) present in affected patient and unaffected daughter. ILD = Interstitial lung disease. Telomere assays were not performed in this family.