Chan, "The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy
2/seipin plays a key role in adipocyte differentiation," Endocrinology, vol.
Abbreviations BSCL2: Berardinelli-Seip congenital lipodystrophy
CMT2D: Charcot-Marie-Tooth 2D DCTN1: Dynactin subunit 1 dHMN: Distal hereditary motor neuropathies dSMA-V: Distal spinal muscular atrophy type V dSMA-Va: Distal spinal muscular atrophy type Va EMG: Electromyography ETC: Mitochondrial respiratory chain enzyme analysis GARS: Glycyl tRNA synthetase IGHMBP2: Immunoglobulin [mu]-binding protein-2 L: Leucine R: Arginine SETX: Senataxin sHSP: Small heat shock proteins SMA: Spinal muscular atrophy RSV: Respiratory syncytial virus VUS: Variant of unknown significance WES: Whole exome sequencing.
Furthermore, the development of lipodystrophy is correlated with the mutations of several genes participating in adipose metabolism, such as peroxisome proliferator-activated receptor [gamma] (PPAR[gamma]), 1-acylglycerol-3-phosphate-O-acyltransferase2 (AGPAT2), and Berardinelli-Seip congenital lipodystrophy
(BSCL2), suggesting that this disease may be associated with adipocyte differentiation and lipid synthesis disorders in adipocytes .
Berardinelli-Seip congenital lipodystrophy
. Orphanet Encyclopedia.
Mutations in two genes: 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital lipodystrophy
2 (BSCL2) account for the majority of cases and were identified through linkage analysis with positional cloning in affected families [114, 115].