Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia
Luc Foubert
Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Fax: 604-822-9238
Department of Endocrinology, Pitié Salpétrière Hospital, Paris, France
Search for more papers by this authorJean Luc De Gennes
Department of Endocrinology, Pitié Salpétrière Hospital, Paris, France
Search for more papers by this authorCorresponding Author
Pascale Benlian
Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Fax: 604-822-9238
Department of Molecular Biology, Saint Antoine Hospital, Paris, France
Department of Medical Genetics, University of British Columbia, Room 416-2125 East Mall, Vancouver, B.C., V6T 1Z4, CanadaSearch for more papers by this authorJacqueline Truffert
Department of Endocrinology, Pitié Salpétrière Hospital, Paris, France
Search for more papers by this authorLi Miao
Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Fax: 604-822-9238
Search for more papers by this authorMichael R. Hayden
Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Fax: 604-822-9238
Search for more papers by this authorLuc Foubert
Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Fax: 604-822-9238
Department of Endocrinology, Pitié Salpétrière Hospital, Paris, France
Search for more papers by this authorJean Luc De Gennes
Department of Endocrinology, Pitié Salpétrière Hospital, Paris, France
Search for more papers by this authorCorresponding Author
Pascale Benlian
Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Fax: 604-822-9238
Department of Molecular Biology, Saint Antoine Hospital, Paris, France
Department of Medical Genetics, University of British Columbia, Room 416-2125 East Mall, Vancouver, B.C., V6T 1Z4, CanadaSearch for more papers by this authorJacqueline Truffert
Department of Endocrinology, Pitié Salpétrière Hospital, Paris, France
Search for more papers by this authorLi Miao
Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Fax: 604-822-9238
Search for more papers by this authorMichael R. Hayden
Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Fax: 604-822-9238
Search for more papers by this author
References
- Allain CC, Poon LS, Chan CSG, Richmond W, Fu PC (1974) Enzymatic determination of total cholesterol. Clin Chem 20: 470–475.
- Babirak S, Iverius PH, Fujimoto WY, Brunzell JD (1989) Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis 9: 326–334.
- Benlian P, Etienne J, De Gennes JL, Noe L, Brault D, Raisonnier A, Arnault F, Hamelin J, Foubert L, Chuat JC, Tse C, Galibert F (1995) Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: Possible intron-Alu recombination. J Lipid Res 36: 356–366.
- Benlian P, De Gennes JL, Foubert L, Zhang H, Gagné E, Hayden, M (1996) Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the gene for lipoprotein lipase. N Engl J Med 335: 848–854.
- Brunzell JD (1995) Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In CR Scriver, AL Beaudet, WS Sly, D Valle (eds): The Metabolic Basis of Inherited Disease, 7th Ed. Highstown, NJ: McGraw-Hill, pp 1913–1932.
- Buccolo G, David H (1973) Quantitative determination of serum triglycerides by the use of enzymes. Clin Chem 19: 476–482.
- Chapman MJ, Goldstein S (1976) Comparison of the serum low density lipoprotein and of its apoprotein in the pig, rhesus monkey and baboon with that in man. Atherosclerosis 25: 267–91.
- Coleman T, Seip RL, Bimble JM, Lee D, Maeda N, Semenkovich CF (1995) COOH-terminal disruption of lipoprotein lipase in mice is lethal in homozygotes, but heterozygotes have elevated triglycerides and impaired enzyme activity. J Biol Chem 270: 12518–12525.
- Emi M, Hata A, Robertson MA, Iverius PH, Hegele RA, Lalouel J-M (1990) Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene. Am J Hum Genet 47: 107–111.
- Ginzinger DG, Lewis SME, Ma Y, Jones BR, Liu G, Jones SD, Hayden MR (1996) A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats. J Clin Invest 97: 1257–1266.
- Gotoda T, Yamada N, Kawamura M, Kozaki K, Mori N, Ishibashi S, Shimano H, Takaku F, Yazaki Y, Furuichi Y, Murase T (1991) Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. J Clin Invest 88: 1856–1864.
- Hayden MR, Ma Y, Brunzell J, Henderson HE (1991) Genetic variants affecting human lipoprotein and hepatic lipases. Curr Opin Lipidol 2: 104–109.
- Hölzl B, Huber R, Paulweber B, Patsch JR, Sandhofer F (1994) Lipoprotein lipase deficiency due to a 3′ splice site mutation in intron 6 of the lipoprotein lipase gene. J Lipid Res 35: 2161–2169.
- Iverius PH, Brunzell JD (1985) Human adipose lipoprotein lipase: changes with feeding and relationship to postheparin plasma enzyme. Am J Physiol 249: E107–E114.
- Langlois S, Deeb S, Brunzell JD, Kastelein JP, Hayden MR (1989) A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. Proc Natl Acad Sci USA 86: 948–952.
- Ma Y, Liu M-S, Zhang H, Forsythe I, Brunzell JD, Hayden MR (1993) A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia. Hum Mol Genet 2: 1049–1050.
- Monsalve MV, Henderson H, Roederer G, Deeb S, Kastelein JJP, Peritz L, Devlin R, Bruin T, Murthy MRV, Gagné C, Davignon J, Lupien PJ, Brunzell JD, Hayden MR (1990) A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. J Clin Invest 86: 728–734.
- Nagamine CM, Chan K, Lau Y-FC (1989) A PCR artifact: Generation of heteroduplexes. Am J Hum Genet 45: 337–339.
- Takagi A, Ikeda Y, Tsutsumi Z, Shoji T, Yamamoto A (1992) Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes nondetectable LPL protein due to the absence of LPL mRNA. J Clin Invest 89: 581–591.
- Warnick GR, Albers JJ (1978) Heparin-Mn2+ quantitation of high density lipoprotein cholesterol: an ultrafiltration procedure for lipemic samples. Clin Chem 24: 900–904.
- Weinstock PH, Bisgaier CL, Aalto-Setala K, Radner H, Ramakrishnan R, Levak-Frank S, Essenburg AD, Zechner R, Breslow JL (1995) Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knock out mice. J Clin Invest 96: 2555–2568.
- Williams KJ, Tabas I (1995) The response-to-retention hypothesis to early atherogenesis. Arteriosler Thromb Vasc Biol 15: 551–561.