Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date

Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date

Abstract Background Lipoprotein lipase (LPL) is the rate-limiting enzyme for triglyceride hydrolysis. Homozygous or compound heterozygous LPL variants cause autosomal recessive familial chylomicronemia syndrome (FCS), whereas simple heterozygous LPL variants are associated with hypertriglyceridemia...

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Bibliographic Details
Main Authors: Guofu Zhang, Yuepeng Hu, Qi Yang, Na Pu, Gang Li, Jingzhu Zhang, Zhihui Tong, Emmanuelle Masson, David N. Cooper, Jian-Min Chen, Weiqin Li
Format: Article
Language:English
Published: BMC 2023-08-01
Series:Lipids in Health and Disease
Subjects:
Aberrant splicing
Cryptic splice site
Familial chylomicronemia syndrome
Genotype–phenotype relationship
Hypertriglyceridemia-related acute pancreatitis
In-frame variant
Online Access:https://doi.org/10.1186/s12944-023-01898-w

Internet

https://doi.org/10.1186/s12944-023-01898-w

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