Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy

• DOI: 10.4274/jcrpe.3556
• Publication Date: 2016-09-02T12:35:56Z
• Authors: Xueying Su; Ruizhu Lin; Yonglan Huang; Huiying Sheng; Xiaofei Li; Tzer Hwu Ting; Li Liu; Xiuzhen Li
• Keywords: Lipodystrophy; Acanthosis Nigricans

To investigate the clinical and molecular features of congenital generalized lipodystrophy (CGL) in three Chinese patients with various typical manifestations.Data on symptoms, results laboratory analyses, previous treatments were collected by a retrospective review medical records. All coding regions adjacent exon-intron junction AGPAT2 BSCL2 genes amplified polymerase chain reaction sequenced.Generalized lipodystrophy, acanthosis nigricans, muscular hypertrophy, severe hypertriglyceridemia, hepatomegaly all patients. Patient 1 developed diabetes mellitus at early age 2 months he was youngest CGL patient reported overt diabetes. found to have cardiomyopathy when she aged 6 months. mutations gene, but none these novel mutation. We did not find any mutation our patients.All exhibited characteristic due gene.