Clinical and mutational features of three chinese children with congenital generalized lipodystrophy

Objective: to investigate the clinical and molecular features of congenital generalized lipodystrophy (cgl) in three chinese patients with various typical manifestations. methods: data on clinical symptoms,results of laboratory analyses,and previous treatments in three chinese patients were collected by a retrospective review of medical records. all coding regions and adjacent exon–intron junction regions of agpat2 and bscl2 genes were amplified by polymerase chain reaction and sequenced. results: generalized lipodystrophy,acanthosis nigricans,muscular hypertrophy,severe hypertriglyceridemia,and hepatomegaly were features in all three patients. patient 1 developed diabetes mellitus at the early age of 2 months and he was the youngest cgl patient reported with overt diabetes. patient 2 was found to have cardiomyopathy when she was aged 6 months. all of the patients were found to have mutations in the bscl2 gene,but none of these was a novel mutation. we did not find any agpat2 mutation in our patients. conclusion: all of our patients exhibited characteristic features of cgl due to mutations in the bscl2 gene. © 2017 by turkish pediatric endocrinology and diabetes society.