Table 1 Clinical phenotype and molecular characterization of Italian PHTS patients studied
Patient | S/F | Age of diagnosis | Mutation | Clinical manifestations | Affected relatives |
|---|---|---|---|---|---|
PHTS1 | F | 53 yrs | c.406 T→C p.C136R | BRRS: macrocephaly, brain asymmetry, arteriovenous malformations, glycogenic acanthosis, hamartomatous gastric polyps, colon cancer, penis macules, keratosis of the hands and feet | Father and one brother died of colon cancer; they both showed penis macules. |
PHTS2 | S | 45 yrs | ↓ mRNA | CS: hamartomatous gastric Cowden polyps, colon cancer, glycogenic acanthosis, keratosis of the hands and feet, a few freckles on penis | ___ |
PHTS3 | S | 54 yrs | ↓ mRNA | CS: hamartomatous colonic Cowden polyps, colon cancer, horseshoe kidney. | ___ |