Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.

Pernille Svalastoga Alba Kaci Janne Molnes Marie H Solheim Bente B Johansson Lars Krogvold Torild Skrivarhaug Eivind Valen Stefan E Johansson Anders Molven Gunnar Mellgren Eirik Søfteland Lise Bjørkhaug Erling Tjora Ingvild Aukrust Pal Rasmus Njolstad

Published in: Diabetologia (2023)

Based on this robust classification, we estimate that the prevalence of HNF1A-MODY is 0.3% in paediatric diabetes. Clinical phenotyping is challenging and functional investigations provide a strong complementary line of evidence. We demonstrate here that combining clinical phenotyping with functional protein studies provides a powerful tool to obtain a precise diagnosis of HNF1A-MODY.

Keyphrases

type diabetes
cardiovascular disease
emergency department
intensive care unit
glycemic control
machine learning
nuclear factor
high throughput
risk factors
adipose tissue
copy number
small molecule
dna methylation
insulin resistance
protein protein