HH-related genetic alterations occur frequently in MBSHH (87%) and BCC (85%)12, and loss-of-function mutations of Ptch1 and Sufu and gain-of-function mutations of Smo and Gli2 are typically found in MBSHH and BCC, all resulting in the upregulation of GLI1 levels13. The gene discussed is SMO; the disease is skin basal cell carcinoma.