We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.
- Authors
Xueying Su; Ruizhu Lin; Yonglan Huang; Huiying Sheng; Xiaofei Li; Tzer Hwu Ting; Li Liu; Xiuzhen Li
- Abstract
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.
- Subjects
BREAST milk; CHINESE people; INFANT formulas; GENETIC mutation; POLYMERASE chain reaction; RESEARCH funding; ULTRASONIC imaging; RETROSPECTIVE studies; OLIGONUCLEOTIDE arrays; LIPODYSTROPHY
- Publication
Journal of Clinical Research in Pediatric Endocrinology, 2017, Vol 9, Issue 1, p52
- ISSN
1308-5727
- Publication type
Article
- DOI
10.4274/jcrpe.3556