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
Checked for plagiarism Yes
Review by Single-blind
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
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
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