Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrity

Abstract excerpt

<h4>Summary</h4> We report a novel cause of partial lipodystrophy associated with early B cell factor 2 ( EBF2 ) nonsense variant ( EBF2 8:26033143 C>A, c.493G>T, p.E165X) in a patient with an atypical form of partial lipodystrophy. The patient presented with progressive adipose tissue loss and metabolic deterioration at pre-pubertal age. In vitro and in vivo disease modeling demonstrates that the EBF2 variant imp...

Topics

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• Adipose Tissue
• Asian People
• Follow-Up Studies
• Lamin Type A
• Lipodystrophy
• Lipodystrophy, Familial Partial
• Mutation
• Syndrome

Identifiers and source

Literature Corpus work

49892f37-2ad4-56c2-81f7-5fb436d31eca

DOI

10.1101/2024.06.24.24309093