Patient 27 displayed a truncating germline SUFU variant discovered through clinical testing (c.1309_1310insT, p.Glu437Valfs*30, ACMG class 4, paternally inherited), causing Gorlin syndrome (also known as Basal cell nevus syndrome, autosomal dominant, MIM #109400). Here, SUFU is linked to nevoid basal cell carcinoma syndrome.