A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY.

Aims/hypothesis: Systematic studies on the phenotypic consequences of variants causal of HNF1A-MODY are rare. Our aim was to assess the phenotype of carriers of a single HNF1A variant and genetic and clinical factors affecting the clinical spectrum.

Methods: We conducted a family-based multigenerational study by comparing heterozygous carriers of the HNF1A p.