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  • An autosomal recessive condition associated with mutation(s) in multiple genes: the CAV1 gene (encoding caveolin-1); the AGPAT2 gene (encoding 1-acyl-sn-glycerol-3-phosphate acyltransferase beta); the BSCL2 gene (encoding seipin); or the PTRF gene (encoding polymerase I and transcript release factor). Clinical manifestations include lipoatrophy affecting the trunk, limbs, and face; acromegaloid features; hepatomegaly secondary to hepatic steatosis; skeletal muscle hypertrophy; hypertrophic cardiomyopathy; hypertriglyceridemia; severe insulin resistance; and impaired glucose tolerance or diabetes.
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