Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.

•Two unrelated Chinese patients with CGL2 diagnosed by genetic sequencing.•A compound heterozygous mutation was found in patient 2 with CGL2.•Patient 2 had renal hypertrophy, an uncommon feature of CGL2.•The c.713G>A/p.Gly238Asp is a novel variant of the BSCL2 gene.