Figure 2. Pedigrees of the NTUH-11 and NTUH-9 families with TGFBI sequences. Open symbols indicate unaffected individuals, and solid symbols indicate affected members. Probands are marked by an arrow. A: The proband of the NTUH-11 family had a A546D mutation in exon 12, but her parents and son had normal TGFBI sequences. B: The proband of the NTUH-9 family and his elder son had a heterozygous C→T transition (R124C) in exon 4, but the proband’s parents and his younger son had TGFBI sequences without this R124 mutation.