Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.

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Abstract

Type I hyperlipoproteinemia, also known as familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disorder caused by variants in LPL, APOC2, APOA5, LMF1 or GPIHBP1 genes. The aim of this study was to identify novel variants in the LPL gene causing lipoprotein lipase deficiency and to understand the molecular mechanisms.

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Journal

Journal ID (iso-abbrev): Nutr Metab Cardiovasc Dis

Title: Nutrition, metabolism, and cardiovascular diseases : NMCD

Publisher: Elsevier BV

ISSN (Electronic): 1590-3729

ISSN (Print): 0939-4753

Publication date (Electronic): February 2018

Volume: 28

Issue: 2

Affiliations

[1 ] Department of Molecular and Clinical Medicine, University of Gothenburg, Sweden.

[2 ] Department of Molecular and Clinical Medicine, University of Gothenburg, Sweden; Cardiology Department, Sahlgrenska University Hospital, Gothenburg, Sweden.

[3 ] Clinical Nutrition Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.

[4 ] Cardiology Department, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden.

[5 ] Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Ullevaal, Oslo, Norway.

[6 ] Department of Molecular and Clinical Medicine, University of Gothenburg, Sweden; Cardiology Department, Sahlgrenska University Hospital, Gothenburg, Sweden; Clinical Nutrition Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy. Electronic address: stefano.romeo@wlab.gu.se.

[7 ] Department of Molecular and Clinical Medicine, University of Gothenburg, Sweden. Electronic address: piero.pingitore@wlab.gu.se.

Article

Publisher Item ID: S0939-4753(17)30288-0

DOI: 10.1016/j.numecd.2017.11.003

PubMed ID: 29288010

SO-VID: 8ce085af-1eea-4555-8558-38967c460173

History

Keywords: Familial chylomicronemia syndrome,LPL,Missense and frameshift variants,Familial hypertriglyceridemia,Familial lipoprotein lipase deficiency

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Keywords: Familial chylomicronemia syndrome, LPL, Missense and frameshift variants, Familial hypertriglyceridemia, Familial lipoprotein lipase deficiency

Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.

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