Rare mutation of angiopoietin-like protein 8 gene and severe hypertriglyceridemia
- VernacularTitle:血管生成素样蛋白8基因罕见突变与严重高三酰甘油血症
- Author:
Song YANG
1
;
Yun-Yun YANG
;
Xiao-Lu JIAO
;
Miao-Miao ZHU
;
Juan LI
;
Yan-Wen QIN
Author Information
1. 首都医科大学附属北京安贞医院北京市心肺血管疾病研究所
- Keywords:
ANGPTL8;
hypertriglyceridemia;
next-generation sequencing;
gene mutation
- From:
Basic & Clinical Medicine
2018;38(5):622-625
- CountryChina
- Language:Chinese
-
Abstract:
Objective To screen new mutations of ANGPTL8 gene in severe hypertriglyceridemia population.Meth-ods We designed a capture array encompassing all coding regions of the target genes for next -generation sequencing (NGS)in a cohort of 43 unrelated patients with severe hypertriglyceridemia.First, to exclude known TG related gene mutations,then the ANGPTL8 mutation was screened and the Sanger sequencing was performed.In combina-tion with functional prediction and conservatism analysis, the pathogenic mutation was finally screened.Results After bioinformatics analysis, a new ANGPTL8 mutation was identified in 43 patients with severe hypertriglyceri-demia.Conclusions Through ANGPTL8 mutation screening for severe hypertriglyceridemia in this study, a new rare mutation is found.
