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Mutations in ABCC8, KCNJ11, GLUD1, GCK, and HADHSC are known to be associated with FHI. About 45% of affected individuals have mutations in ABCC8 and about 5% havemutations in the coding region of KCNJ11. Approximately 5% of individuals have activating mutations in GLUD1. Rarely, affected individuals have activating mutations in GCK or inactivating mutations inHADHSC. About 40% of individuals with FHI do not have an identifiable mutation in any of the genes known to be associated with FHI. In the Ashkenazi Jewish population, two ABCC8 founder mutationsare responsible for about 90% of FHI. Another ABCC8 founder mutation, V187D, is present in the Finnish population. Mutation analysis for these two mutations and mutation scanning and sequence analysis of ABCC8, KCNJ11, GLUD1, and GCK are available on a clinical basis.

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