Phenotypic variability in maturity-onset diabetes of the young (MODY) makes screening criteria for genomic analysis challenging. We describe the clinical spectrum in a large pedigree with HNF1A-MODY; as generations progressed, the course and outcome became poorer. Although uncommon, pancreatic autoantibodies and diabetes ketoacidosis should not exclude the diagnosis of MODY.
Keywords: Genetics; Hepatocyte nuclear factor 1-alpha (HNF1A); Maturity-onset diabetes of the young (MODY); Mutation.
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