Figure 1. Pedigrees and THBS1 variants identified in 3 families.

(A) Pedigrees of 3 families with THBS1 mutations. Specific mutations in THBS1 are listed below the family number, with carrier family members annotated as +/M. Affected individuals are indicated by solid black symbols. Note: White symbols do not exclude undiagnosed late-onset disease. (B) Schematic representation of THBS1 protein domains and location of R1034 in the C-terminal domain. R1034 is the first amino acid of an 8–amino acid sequence involved with CD47 binding. VWFC, von Willebrand factor type C domain. (C) Sequence alignment of THBS1 R1034 showing strong evolutionary conservation.