- •Panel sequencing is also useful in familial chylomicronemia syndrome.
- •LPL gene was found to be the major driver of this condition.
- •Hyperchylomicronemia may not be a cause of atherosclerosis.
Background and aims
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- Familial hyperlipoproteinemia.in: Stanbury J.B. The Metabolic Basis of Inherited Disease. second ed. McGraw-Hill, New York1966: 429
- Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.J. Clin. Invest. 1991; 88: 1856-1864
- A Japanese patient with lipoprotein lipase deficiency homozygous for the Gly188Glu mutation prevalent worldwide.J. Atheroscler. Thromb. 2000; 7: 45-49
- Remnant cholesterol as a causal risk factor for ischemic heart disease.J. Am. Coll. Cardiol. 2013; 61: 427-436
- Common variants associated with plasma triglycerides and risk for coronary artery disease.Nat. Genet. 2013; 45: 1345-1352
- Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.J. Intern Med. 2012; 272: 185-196
- Genotype-phenotype relationships in patients with type I hyperlipoproteinemia.J. Clin. Lipidol. 2014; 8: 287-295
- Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models.Am. J. Physiol. Heart Circ. Physiol. 2014; 307: H1594-H1604
- Next, generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis.J. Prenat. Med. 2014; 8: 17-24
- Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.J. Cardiol. 2016; 67: 133-139
- Functional characterization of rare variants implicated in susceptibility to lone atrial fibrillation.Circulation Arrhythmia Electrophysiol. 2015; 8: 1095-1104
- A general framework for estimating the relative pathogenicity of human genetic variants.Nat. Genet. 2014; 46: 310-315
- Discovery and refinement of loci associated with lipid levels.Nat. Genet. 2013; 45: 1274-1283
- Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo.Circ. Cardiovasc Genet. 2012; 5: 35-41
- Clinical characteristics of Japanese patients with severe hypertriglyceridemia.J. Clin. Lipidol. 2015; 9: 519-524
- A sandwich-enzyme immunoassay for the quantification of lipoprotein lipase and hepatic triglyceride lipase in human postheparin plasma using monoclonal antibodies to the corresponding enzymes.J. Lipid Res. 1990; 31: 1911-1924
- A system for phenotyping hyperlipoproteinemia.Circulation. 1965; 31: 321-327
- Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.Atherosclerosis. 2015; 240: 324-329
- Report of the committee on the classification and diagnostic criteria of diabetes mellitus.J. Diabetes Investig. 2010; 1: 212-228
- A map of human genome variation from population-scale sequencing.Nature. 2010; 467: 1061-1073
- Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.J. Clin. Invest. 1992; 89: 581-591
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the american College of medical genetics and Genomics and the association for molecular pathology.Genet. Med. 2015; 17: 405-424
- Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.Hum. Mutat. 1994; 3: 52-58
- A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.Biochem. Biophys. Res. Commun. 1993; 191: 1046-1054
Human Gene Mutation Database (HGMD), http://www.hgmd.cf.ac.uk.
NHLBI Exome Sequencing Project (ESP). Exome Variant Server, http://evs.gs.washington.edu/EVS/.
The Exome Aggregation Consortium (ExAC), http://exac.broadinstitute.org.
- Zebrafish as tools for drug discovery.Nat. Rev. Drug Discov. 2015; 14: 721-731
- Deficient cholesterol esterification in plasma of apoc2 knockout zebrafish and familial chylomicronemia patients.PLoS One. 2017; 12: e0169939
- No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61->stop) in the lipoprotein lipase gene.Atherosclerosis. 2001; 159: 375-379
- 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis.Clin. Chim. Acta. 2007; 386: 100-104
- Targeting APOC3 in the familial chylomicronemia syndrome.N. Engl. J. Med. 2014 Dec 4; 371: 2200-2206