Clinical features and gene analysis in a family with type 2 congenital generalized lipodystrophy due to BSCL2 mutation
10.3760/cma.j.cn311282-20200819-00584
- VernacularTitle:BSCL2基因突变导致先天性全身性脂肪营养不良综合征一家系临床特点及基因分析
- Author:
Yan TONG
1
;
Wencai LAN
;
Yang CHEN
;
Jianqing HUANG
;
Zhaoliang ZENG
;
Mei TU
Author Information
1. 福建医科大学附属龙岩第一医院内分泌科 364000
- Keywords:
BSCL2 gene;
Leptin;
Lipodystrophy;
Berardinelli-Seip syndrome
- From:
Chinese Journal of Endocrinology and Metabolism
2021;37(7):599-606
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical and genetic features in a family with type 2 congenital generalized lipodystrophy, and to improve the understanging of this disease.Methods:The clinical symptoms, results of the laboratory, and radiography examinations of the patient and his family members were analyzed. The whole exome sequencing and Sanger validation were used to determine the genetic cause of the disease.Results:Generalized lipodystrophy, impaired liver function, severe hypertriglyceridemia, and acanthosis nigricans were found in the proband. His serum leptin level was much lower than normal value. The proband and three members of this family were confirmed to have insertion mutation at exon 5 of BSCL2 gene. The site was mutated from TTC to TCGGTC, resulting in the replacement of glutamate by aspartate and arginine. The mutation in proband was homozygote, and his father, mother, and brother were heterozygous.Conclusions:The mutation in exon 5 c. 545_546insCCG of BSCL2 gene leads to the occurrence of type 2 congenital generalized lipodystrophy.
