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To date, only three patients with recurrent hypertriglyceridemia\u2010induced APIP (HTG\u2010APIP) have been reported to carry rare variants in the lipoprotein lipase (<jats:italic>LPL<\/jats:italic>) gene, which encodes the key enzyme responsible for triglyceride (TG) metabolism. Coincidently, all three patients harbored <jats:italic>LPL<\/jats:italic> variants on both alleles and presented with complete or severe LPL deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The entire coding regions and splice junctions of <jats:italic>LPL<\/jats:italic> and four other TG metabolism genes (<jats:italic>APOC2<\/jats:italic>, <jats:italic>APOA5<\/jats:italic>, <jats:italic>GPIHBP1<\/jats:italic>, and <jats:italic>LMF1<\/jats:italic>) were analyzed by Sanger sequencing in a Han Chinese patient who had experienced two episodes of HTG\u2010APIP. The impact of a novel <jats:italic>LPL<\/jats:italic> missense variant on LPL protein expression and activity was analyzed by transient expression in HEK293T cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel heterozygous <jats:italic>LPL<\/jats:italic> missense variant, p.His210Leu (c.629A &gt; T), was identified in our patient. This variant did not affect protein synthesis but significantly impaired LPL secretion and completely abolished the enzymatic activity of the mutant protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This report describes the first identification and functional characterization of a heterozygous variant in the <jats:italic>LPL<\/jats:italic> that predisposed to recurrent HTG\u2010APIP. Our findings confirm a major genetic contribution to the etiology of individual predisposition to HTG\u2010APIP.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1048","type":"journal-article","created":{"date-parts":[[2020,1,21]],"date-time":"2020-01-21T20:23:14Z","timestamp":1579638194000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Identification and functional characterization of a novel heterozygous missense variant in the <i>LPL<\/i> associated with recurrent hypertriglyceridemia\u2010induced acute pancreatitis in pregnancy"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7617-4881","authenticated-orcid":false,"given":"Xiao\u2010Lei","family":"Shi","sequence":"first","affiliation":[{"name":"Surgical Intensive Care Unit (SICU) Department of General Surgery Jinling Hospital Medical School of Nanjing University Nanjing 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