Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy

Shi, Xiao-Lei, Yang, Qi, Pu, Na, Li, Xiao-Yao, Chen, Wei-Wei, Zhou, Jing, Li, Gang, Tong, Zhi-Hui, Férec, Claude, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Chen, Jian-Min and Li, Wei-Qin 2020. Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy. Molecular Genetics and Genomic Medicine 8 (3) , e1048. 10.1002/mgg3.1048

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Abstract

Acute pancreatitis in pregnancy (APIP) is a life‐threatening disease for both mother and fetus. To date, only three patients with recurrent hypertriglyceridemia‐induced APIP (HTG‐APIP) have been reported to carry rare variants in the lipoprotein lipase (LPL) gene, which encodes the key enzyme responsible for triglyceride (TG) metabolism. Coincidently, all three patients harbored LPL variants on both alleles and presented with complete or severe LPL deficiency.

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Medicine
Publisher:	Wiley
ISSN:	2324-9269
Date of First Compliant Deposit:	31 January 2020
Date of Acceptance:	23 October 2019
Last Modified:	05 May 2023 21:26
URI:	https://orca.cardiff.ac.uk/id/eprint/129224

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