Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY

GCK, HNF1A, HNF4A, HNF1B (MODY)

Population-based study of prevalence, penetrance and mortality for genetically confirmed MODY — correction of ascertainment bias

MODY diagnosis is clinically important for treatment and prognosis, but phenotype-based studies are prone to ascertainment bias. The authors leverage population-based data to estimate the true prevalence, penetrance and mortality of genetically confirmed MODY. Their findings correct prior estimates often based on selected clinical cohorts, and provide gene-specific penetrance data (GCK, HNF1A, HNF4A, HNF1B) directly usable in genetic counselling.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Rare and valuable population-based data for MODY: the true prevalence and gene-specific penetrance likely differ from commonly cited figures. To integrate into genetic counselling tools and into testing criteria for relatives. A reference article for diabetic genetics consultations.

known genes +0; large population cohort +2; directly actionable penetrance data +2; genetic counselling impact +1; J Clin Endocrinol Metab +1