The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy
ASC Sarmento, LC Ferreira, JG Lima… - … Research/Reviews in …, 2019 - Elsevier
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the
near total absence of body fat at birth. BSCL etiology involves genetic variations in four
different genes: AGPAT2, BSCL2, CAV1, and CAVIN1. The four different biochemical
subtypes of the disease are distinguished depending on which gene is mutated. The
diagnosis of lipodystrophy can be based on clinical criteria, but the gold standard remains
genetic testing. Since many different mutations have already been correlated with the onset …
near total absence of body fat at birth. BSCL etiology involves genetic variations in four
different genes: AGPAT2, BSCL2, CAV1, and CAVIN1. The four different biochemical
subtypes of the disease are distinguished depending on which gene is mutated. The
diagnosis of lipodystrophy can be based on clinical criteria, but the gold standard remains
genetic testing. Since many different mutations have already been correlated with the onset …