Article
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.
Lipids in health and disease - 11 Aug 2023
Zhang Guofu, Hu Yuepeng, Yang Qi, Pu Na, Li Gang, Zhang Jingzhu, Tong Zhihui, Masson Emmanuelle, Cooper David N, Chen Jian-Min, Li Weiqin
Abstract excerpt
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 (HTG) and HTG-related disorders. LPL frameshift coding sequence variants usually cause complete functional loss of the...
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