Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency

Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency

Lipoprotein lipase deficiency (LPLD) is a rare disease characterized by the accumulation of chylomicronemia with early-onset. Common symptoms are abdominal pain, hepatosplenomegaly, eruptive xanthomas and lipemia retinalis. Serious complications include acute pancreatitis. Gene LPL is one of causati...

Full description

Bibliographic Details
Main Authors: Yakun Li, Man Hu, Lin Han, Lifang Feng, Luhong Yang, Xiaoqian Chen, Tingting Du, Hui Yao, Xiaohong Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Genetics
Subjects:
LPL gene
lipoprotein lipase deficiency (LPLD)
familial hyperchylomicronemia syndrome (FCS)
hyperlipoproteinemia
whole-exome sequencing (WES)
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.831133/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.831133/full

Similar Items