In 25 patients (13.6%), variations were identified in TSC1, whereas in 85 patients (46.2%), variations were observed in TSC2 (TSC1:TSC2 ratio 1:3.4), and five patients (2.7%) suffered from a polycystic kidney disease with tuberous sclerosis (PKDTS), which is a contiguous gene deletion syndrome. The gene discussed is TSC2; the disease is autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis.