In two other genes, a previously reported missense mutation was found in a single individual: one mutation (p.G60D) in HRAS was detected in a patient with CS and severe LV hypertrophy; and one mutation (p.S2G) in SHOC2 was detected in a patient with NS/LAH and moderate LV hypertrophy. Here, SHOC2 is linked to Cowden syndrome 1.