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 ofAGPAT2andBSCL2genes 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 theBSCL2gene, but none of these was a novel mutation. We did not find anyAGPAT2mutation in our patients.


CONCLUSIONS
All of our patients exhibited characteristic features of CGL due to mutations in theBSCL2gene.
Xueying
X
Su
Ruizhu
R
Lin
Yonglan
Y
Huang
Huiying
H
Sheng
Xiaofei
X
Li
Tzer Hwu
TH
Ting
Li
L
Liu
Guangzhou Women and Children's Medical Center, Department of Genetics and Endocrinology, Guangzhou, China Phone: +862038076073 E-mail: 13725100840@163.com.
Xiuzhen
X
Li
D000217:Acyltransferases / Q000235:genetics; D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D052497:Lipodystrophy, Congenital Generalized / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies
C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits; D000217:Acyltransferases; C018764:2-acylglycerophosphate acyltransferase