CAV1 and Berardinelli-Seip congenital lipodystrophy: 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.