Article
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
American journal of human genetics - 3 Nov 2022
Mirshahi Uyenlinh L, Colclough Kevin, Wright Caroline F, Wood Andrew R, Beaumont Robin N, Tyrrell Jessica, Laver Thomas W, Stahl Richard, Golden Alicia, Goehringer Jessica M, Frayling Timothy F, Hattersley Andrew T, Carey David J, Weedon Michael N, Patel Kashyap A
Abstract excerpt
The true prevalence and penetrance of monogenic disease variants are often not known because of clinical-referral ascertainment bias. We comprehensively assess the penetrance and prevalence of pathogenic variants in HNF1A, HNF4A, and GCK that account for >80% of monogenic diabetes. We analyzed clinical and genetic data from 1,742 clinically referred probands, 2,194 family members, clinically unselected...
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