In vitro functional analyses can aid precision diagnostics of HNF1B-MODY

Precision medicine relies on accurate and consistent classification of sequence variants. A correct diagnosis of HNF1B-MODY, caused by pathogenic variants in the HNF1B gene, is important for optimal disease management and prognosis, and has implications for genetic counseling and follow-up of at-risk family members. In the present study, the hypothesis is that the functional characterization could provide valuable information to assist the interpretation of pathogenicity of HNF1B variants. Using different in vitro functional assays, seven variants were analyzed identified among 313 individuals suspected to have monogenic diabetes with or without kidney disease.

Source: Journal of Molecular Diagnostics - April 2, 2024 Category: Pathology Authors: Aishwarya Pavithram, Haichen Zhang, Kristin A. Maloney, Monika Ringdal, Alba Kaci, J ørn V. Sagen, Jeffrey Kleinberger, Linda J.B. Jeng, Pål R. Njølstad, Toni I. Pollin, Janne Molnes, Bente B. Johansson Tags: Regular Article Source Type: research