Figure 2

Pedigrees of HPAH/CHD-APAH patients with identified mutations. The figure represents pedigree trees of children with mutations. The index patient of each family is marked by an arrow. All family members with manifest PAH are shown in black. Family members in whom the diagnosis HPAH is questionable are shown in grey. Healthy family members have open symbols and those who were heterozygous for the identified mutation are referred to as “carrier”. Not tested family members are indicated by question mark. Pedigrees 1 to 8 represent families of I/HPAH patients and pedigrees 8 and 9 families of CHD-APAH patients. The numbering of the pedigrees corresponds to the appearance of the patients in Table 1. Mutations in the BMPR2 gene in I/HPAH patients were found in families 1 to 4. The BMPR2 sequence variant in family 5 which we classified as mutation could represent a mutation or a non-deleterious polymorphism. ACVRL1 mutations were present in families 6 and 7, and the ENG mutation in family 8. In CHD-APAH patients mutations were identified in BMPR2 (family 9) and ENG (family 10).