High Incidence of Heterozygous<i>ABCC8</i>and<i>HNF1A</i>Mutations in Czech Patients With Congenital Hyperinsulinism

Abstract

We detected a higher proportion of heterozygous mutations causing CHI compared with other cohorts probably due to lack of consanguinity and inclusion of milder CHI forms. Interestingly, HNF1A gene mutations represented the second most frequent genetic cause of CHI in the Czech Republic. Based on our results we present a genetic testing strategy specific for similar populations.