Positive autoantibodies were present in four CS patients: antinuclear antibodies (ANA) were tested in ten patients and two were positive; anti-mitochondrial antibodies (M2 subtype; AMA-M2) were tested in seven patients and two were positive; and anti-smooth muscle antibodies (SMA) were tested in seven patients and one was positive. The gene discussed is SMN1; the disease is Cowden syndrome 1.