Pathogenic, Total Loss-of-Function <i>DYRK1B</i> Variants Cause Monogenic Obesity Associated With Type 2 Diabetes

202413 citationsJournal Article

Authors

Lise Folon · Inserm

Morgane Baron · Université de Lille

Victoria Scherrer · Centre National de la Recherche Scientifique

Bénédicte Toussaint · Université de Lille

Emmanuel Vaillant · Inserm

Hélène Loiselle · Institut Pasteur de Lille

Aurélie Dechaume ·

Abstract

P/LP, total loss-of-function DYRK1B variants cause monogenic obesity associated with type 2 diabetes. This study underscores the significance of conducting functional assessments in order to accurately ascertain the tangible effects of P/LP DYRK1B variants.

Topics & Keywords

Down syndrome and intellectual disability research Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Diabetes Care

Volume 47, Issue 3, pp. 444-451

DOI: 10.2337/dc23-1851

Field-Weighted Citation Impact: 7.13