UPM Institutional Repository

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


Citation

Xueying, Su and Ruizhu, Lin and Yonglan, Huang and Huiying, Sheng and Xiaofei, Li and Tzer, Hwu Ting and Li, Liu and Xiuzhen, Li (2017) Clinical and mutational features of three Chinese children with congenital generalized lipodystrophy. Journal of Clinical Research in Pediatric Endocrinology, 9 (1). 52 - 57. ISSN 1308-5727; ESSN: 1308-5735

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.


Download File

[img]
Preview
Text (Abstract)
Clinical and mutational features of three Chinese children with congenital generalized lipodystrophy.pdf

Download (102kB) | Preview

Additional Metadata

Item Type: Article
Divisions: Faculty of Medicine and Health Science
DOI Number: https://doi.org/10.4274/jcrpe.3556
Publisher: Galenos Publishing
Keywords: Lipodystrophy; Hypertriglyceridemia; Diabetes; Cardiomyopathy
Depositing User: Nida Hidayati Ghazali
Date Deposited: 31 Oct 2018 06:39
Last Modified: 31 Oct 2018 06:39
Altmetrics: http://www.altmetric.com/details.php?domain=psasir.upm.edu.my&doi= 10.4274/jcrpe.3556
URI: http://psasir.upm.edu.my/id/eprint/61122
Statistic Details: View Download Statistic

Actions (login required)

View Item View Item