Here, Elif A. Oral & team describe a nonsense variant in EBF2 in a patient with an atypical form of partial lipodystrophy and establish a mouse model—linking the EBF2 p. E165X variant to impaired adipogenesis and adipose tissue function.
The image shows inguinal adipose tissue from the EBF2 p. E165X knock-in mouse, demonstrating prominent accumulation of collagen fibers (blue) and elastin-rich eosinophilic material (purple).
1Caswell Diabetes Institute and Metabolism, Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA.
2Department of Clinical and Translational Sciences, University of Pisa, Pisa, Italy.
3Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, USA.