Back to Journals » Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy » Volume 12

A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy

Authors Qin Y, Zhang X, Xiang L, Shan Q, Li S, Yan J, Lin F

Received 1 March 2019

Accepted for publication 14 October 2019

Published 5 December 2019 Volume 2019:12 Pages 2583—2587

DOI https://doi.org/10.2147/DMSO.S207293

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Melinda Thomas

Peer reviewer comments 2

Editor who approved publication: Dr Antonio Brunetti


Yuan-yuan Qin,1 Xuan Zhang,1 Li-qun Xiang,1 Qing-wen Shan,2 Shou-dong Li,3 Jie Yan,1 Fa-quan Lin1

1Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, People’s Republic of China; 2Department of Pediatric, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, People’s Republic of China; 3Guangxi Anren Xin Bio Technology Co., Ltd, Nanning, Guangxi Zhuang Autonomous Region, People’s Republic of China

Correspondence: Fa-quan Lin
The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, People’s Republic of China
Tel +86-771-5329287
Email fqlin1998@163.com

Purpose: This study aims to report the clinical features of an infant with CGL in a Chinese Zhuang ethnic family, whose family members were discovered to carry new pathogenic mutations in the BSCL2.
Patients and methods: In this study, we report clinical and molecular investigations of CGL disease in a family of 4 members (parents and two sons). We used whole exome sequencing (WES) in the family to examine the genetic cause of the disease.
Results: The proband presented with skin pigmentation, hypertriglyceridemia and diabetes. WES identified a previously unreported compound heterozygous mutation in the BSCL2 (c.545_546insCCG heterozygous mutation and exon 3 heterozygous deletion) in the proband. His mother is a heterozygous carrier of the c.545_546insCCG mutation and his father and brother are carriers of the exon 3 heterozygous deletion.
Conclusion: Compound heterozygous mutation of the BSCL2 (new c.545_546insCCG heterozygous mutation and new exon 3 heterozygous deletion) was detected in the proband with characteristic clinical manifestations of CGL2.

Keywords: congenital generalized lipodystrophy, pigmentation, hypertriglyceridemia, diabetes, BSCL2 mutation, whole exome sequencing

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF]  View Full Text [HTML][Machine readable]