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J Clin Lipidol. 2018 Mar - Apr;12(2):506-510. doi: 10.1016/j.jacl.2018.01.011. Epub 2018 Jan 31.

A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome.

Author information

1
Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Québec, Canada.
2
Department of Medicine, University of Western Ontario and Robarts Research Institute, Ontario, Canada.
3
Population Health Research Institute, McMaster University and Hamilton Health Sciences, Hamilton General Hospital, Ontario, Canada; Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Ontario, Canada; Department of Pathology and Molecular Medicine, McMaster University, Ontario, Canada; Thrombosis and Atherosclerosis Research Institute, Ontario, Canada.
4
Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Québec, Canada; Department of Medicine, Division of Experimental Medicine, McGill University, Ontario, Canada; Department of Medicine, Division of Medical Biochemistry, McGill University, Ontario, Canada. Electronic address: alexis.baass@ircm.qc.ca.

Abstract

Familial chylomicronemia syndrome is characterized by severe elevation in serum triglycerides and an increased risk of acute pancreatitis. Although familial chylomicronemia syndrome is mainly caused by mutations in the lipoprotein lipase (LPL) gene, few causal mutations in other genes (ie, APOC2, APOA5, LMF1, and GPIHBP1) have also been reported. In this case report, we present the discovery of a novel mutation in the glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) gene and discuss its pathogenicity through a familial segregation study.

KEYWORDS:

Familial chylomicronemia syndrome; GPIHBP1; Pancreatitis; Pregnancy; Triglycerides

PMID:
29452893
DOI:
10.1016/j.jacl.2018.01.011

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