In  Vitro Functional Analysis Can Aid Precision Diagnostics of Hepatocyte Nuclear Factor 1B Maturity-Onset Diabetes of the Young

Precision medicine relies on accurate and consistent classification of sequence variants. A correct diagnosis of hepatocyte nuclear factor (HNF) 1B maturity-onset diabetes of the young, caused by pathogenic variants in the HNF1B gene, is important for optimal disease management and prognosis, and it 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.

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