Incidence of Mutations in the , , and Genes in Patients With Atypical Femoral Fractures.

Atypical femoral fractures (AFFs) are uncommon and often related to prolonged bisphosphonate (BP) treatment. Isolated cases have been linked to mutations of tissue nonspecific alkaline phosphatase (). Moreover, mutations in the geranylgeranyl pyrophosphate synthase () gene, which can be inhibited by BPs, and in the enzyme of the cytochrome P450 superfamily (), related to the metabolism of several drugs, have also been associated with AFF development.