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

• Main Authors: Xueying, Su, Ruizhu, Lin, Yonglan, Huang, Huiying, Sheng, Xiaofei, Li, Tzer, Hwu Ting, Li, Liu, Xiuzhen, Li
• Format: Article
• Language: English
• Published: Galenos Publishing 2017
• Online Access: http://psasir.upm.edu.my/id/eprint/61122/1/Clinical%20and%20mutational%20features%20of%20three%20Chinese%20children%20with%20congenital%20generalized%20lipodystrophy.pdf; http://psasir.upm.edu.my/id/eprint/61122/; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363165/pdf/JCRPE-9-52.pdf

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.