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Case #13: KCOT (A) characterized by a PTCH1 missense mutation (c.317T > G;p.L106R) (B, arrow) and a PTCH1 nonsense mutation (c.279delC;p.Y93*) (C, arrow) resulting in biallelic PTCH1 inactivation. Case #17: KCOT (D) characterized by a PTCH1 nonsense mutation (c.250C >T;p.Q84*) (E, arrow) and a PTCH1 frameshift mutation (c.1341dupA;p.L448Tfs49*) (F, arrow) resulting in biallelic PTCH1 inactivation. Images show the forward strand of 9q, corresponding to the PTCH1 template strand.
