Figure 1.

Pedigree and genetic analysis of three HHT families. (A) Pedigree of families with genetic mutations and/or symptoms of HHT. Pedigree symbols: filled symbol, affected individual; open symbol, unaffected individual; divided symbol, affected individual by hearsay; gray symbol, no phenotypical and genetic data available. A slashed symbol indicates that the individual is deceased. Genetic analysis was performed on all individuals represented by filled and open symbols. Genetic mutations and HHT-associated symptoms of numbered patients are summarized in Table 1. (B) Genetic studies of three representative family members with HHT. Family 1, ENG c.360+1G > A (p.Gly74_Tyr120del); Family 2, ENG c.1-127 C > T (aberrant translation); Family 3, ACVRL1 c.252_253insC (p.Val85fsX168). The amino acid translation is shown above each codon. The amino acid sequence in Family 2 is the predicted sequence translated from the aberrant translation start codon. Arrows indicate mutation sites. SD, splicing donor sequence.