A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis

Lipids in Health and Disease

Volumn 13, Issue 1, 2014, Pages

  Chen, Tan Zhou ^a   Xie, Sai Li ^a   Jin, Rong ^a   Huang, Zhi Ming ^a  

^a THE FIRST AFFILIATED HOSPITAL OF WENZHOU MEDICAL UNIVERSITY   (China)

Author keywords

Hypertriglyceridemia; Lipoprotein lipase deficiency; LPL gene; Mutation; Pancreatitis

Indexed keywords

APOLIPOPROTEIN A5; APOLIPOPROTEIN C2; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED HIGH DENSITY LIPOPROTEIN BINDING PROTEIN 1; LIPASE MATURATION FACTOR 1; LIPOPROTEIN; LIPOPROTEIN LIPASE; UNCLASSIFIED DRUG;

ACUTE PANCREATITIS; ADULT; AGED; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; HETEROZYGOTE; HUMAN; HYPERTRIGLYCERIDEMIA; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; EXON; GENETICS; PANCREATITIS; PEDIGREE;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; HUMANS; HYPERTRIGLYCERIDEMIA; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MUTATION, MISSENSE; PANCREATITIS; PEDIGREE;

EID: 84898915690     PISSN: None     EISSN: 1476511X     Source Type: Journal    
DOI: 10.1186/1476-511X-13-52     Document Type: Article

References (20)

1. Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis. Fisher RM, Humphries SE, Talmud PJ, Atherosclerosis 1997 135 145 59 10.1016/S0021-9150(97)00199-8 9430364 (Pubitemid 28015181)
2. Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice. Pennacchio LA, Rubin EM, Arterioscler Thromb Vasc Biol 2003 23 529 34 10.1161/01.ATV.0000054194.78240.45 12615678 (Pubitemid 36438063)
3. Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II. Fojo SS, Brewer HB, J Intern Med 1992 231 669 677 10.1111/j.1365-2796.1992.tb01256.x 1619390
4. Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. Peterfy M, Ben-Zee O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH, Nat Genet 2007 39 1483 7 10.1038/ng.2007.24 17994020 (Pubitemid 350191343)
5. Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. Olivecrona G, Ehrenborg E, Semb H, Makoveichuk E, Lindberg A, Hayden MR, Gin P, Davies BS, Weinstein MM, Fong LG, Beigneux AP, Young SG, Olivecrona T, Hernell O, J Lipid Res 2010 51 1535 45 10.1194/jlr.M002717 20026666
6. Human lipoprotein lipase complementary DNA sequence. Wion KL, Kirchgessner TG, Lusis AJ, Schotz MC, Lawn RM, Science 1987 235 1638 41 10.1126/science.3823907 3823907 (Pubitemid 17050145)
7. Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review. Rahalkar AR, Giffen F, Har B, Ho J, Morrison KM, Hill J, Wang J, Hegele RA, Joy T, Can J Physiol Pharmacol 2009 87 151 160 10.1139/Y09-005 19295657
8. Sensitive non-radioisotopic method for measuring lipoprotein lipase and hepatic triglyceride lipase in post-heparin plasma. Nozaki S, Kubo M, Matsuzawa Y, Tarui S, Clin Chem 1984 30 748 751 6713636
9. Missense mutation W86R in exon 3 of the lipoprotein lipase gene in a boy with chylomicronemia. Pasalic D, Jurcic Z, Stipancic G, Ferencak G, Leren TP, Djurovic S, Stavljenic-Rukavina A, Clin Chim Acta 2004 343 179 184 10.1016/j.cccn.2004.01.029 15115692 (Pubitemid 38534513)
10. Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. Surendran RP, Visser ME, Heemelaar S, Wang J, Peter J, Defesche JC, Kuivenhoven JA, Hosseini M, Peterfy M, Kastelein JJ, Johansen CT, Hegele RA, Stroes ES, Dallinga-Thie GM, J Intern Med 2012 272 185 196 10.1111/j.1365-2796.2012.02516.x 22239554
11. Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation. Coca-Prieto I, Kroupa O, Gonzalez-Santos P, Magne J, Olivecrona G, Ehrenborg E, Valdivielso P, J Intern Med 2011 270 224 228 10.1111/j.1365-2796.2011.02361.x 21314738
12. Lipoprotein lipase. Molecular model based on the pancreatic lipase x-ray structure: consequences for heparin binding and catalysis. van Tilbeurgh H, Roussel A, Lalouel JM, Cambillau C, J Biol Chem 1994 269 4626 4633 8308035
13. Role of oxidant injury on macrophage lipoprotein lipase (LPL) production and sensitivity to LPL. Renier G, Desfaits AC, Lambert A, Mikhail R, J Lipid Res 1996 37 799 809 8732780 (Pubitemid 26140816)
14. Lipoprotein lipase: genetics, lipid uptake, and regulation. Merkel M, Eckel RH, Goldberg IJ, J Lipid Res 2002 43 1997 2006 10.1194/jlr.R200015-JLR200 12454259 (Pubitemid 35471065)
15. Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250- > Asn; Ser2510- > Cys) resulting in lipoprotein lipase (LPL) deficiency. Bijvoet SM, Wiebusch H, Ma Y, Reymer PW, Bruin T, Bakker HD, Funke H, Assmann G, Hayden MR, Kastelein JJ, Neth J Med 1996 49 189 195 10.1016/0300-2977(96)00043-5 8973094 (Pubitemid 26375962)
16. A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia. Chan AO, But WM, Lau GT, Tse WY, Shek CC, Clin Chim Acta 2006 368 120 124 10.1016/j.cca.2005.12.020 16460718 (Pubitemid 43776016)
17. Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase. Al-Shali K, Wang J, Fellows F, Huff MW, Wolfe BM, Hegele RA, Clin Biochem 2002 35 125 130 10.1016/S0009-9120(02)00283-7 11983347 (Pubitemid 34442692)
18. Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation. Rip J, Nierman MC, Ross CJ, Jukema JW, Hayden MR, Kastelein JJ, Stroes ES, Kuivenhoven JA, Arterioscler Thromb Vasc Biol 2006 26 1236 1245 10.1161/01.ATV.0000219283.10832.43 16574898 (Pubitemid 44305366)
19. The S447X variant of lipoprotein lipase gene is inversely associated with severity of coronary artery disease. Agirbasli M, Sumerkan MC, Eren F, Agirbasli D, Heart Vessels 2011 26 457 463 10.1007/s00380-010-0077-1 21127884
20. Gene therapy for lipoprotein lipase deficiency. Gaudet D, Methot J, Kastelein J, Curr Opin Lipidol 2012 23 310 320 10.1097/MOL.0b013e3283555a7e 22691709