A homozygous nonsense mutation in CAV1 has been associated with Berardinelli-Seip congenital lipodystrophy (BSCL) or congenital generalized lipodystrophy type 3 (CGL3) (MIM# 612526), a rare syndrome characterized by the absence of adipose tissue from birth or early infancy, resulting in severe dyslipidemia, insulin resistance, and muscular hypertrophy. This evidence concerns the gene CAV1 and congenital generalized lipodystrophy type 3.