A Novel EBF2 Nonsense Variant Drives Adipose Tissue Fibrosis and Dysfunction in Partial Lipodystrophy Syndrome

In vitro disease modeling of an erly B cell factor 2 (EBF2) nonsense variant (EBF2 8:26033143 C>A, c.493G>T, p.E165X) demonstrates that the EBF2 variant impairs adipogenesis causing excess accumulation of extracelluar matrix protein and inflammatory myeloid cells. Human subcutaneous pre-adipocytes were transfected with lentivirus constructs encoding full length EBF2 (575 aa), truncated EBF2 variant (aa. 1-164), or empty lentivirus expressing GFP. Bulk RNA-sequencing was performed for those cells after adipogenesis induction along with coontrol cells without lentivirus trasnduction (control_no-lentivirus).