Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia

Human Mutation

Volumn 8, Issue 4, 1996, Pages 381-383

  Wiebusch, Heiko ^a   Funke, Harald ^a   Bruin, Taco ^b   Bucher, Hans ^c   Von Eckardstein, Arnold ^a   Kastelein, John J P ^b   Assmann, Gerd ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c TRIEMLI HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CHYLOMICRON;

ACUTE PANCREATITIS; ARTICLE; CARBOXY TERMINAL SEQUENCE; DYSLIPIDEMIA; HEPATOSPLENOMEGALY; HETEROZYGOSITY; LIPID BLOOD LEVEL; LIPOLYSIS; MISSENSE MUTATION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; APOLIPOPROTEIN A-I; APOLIPOPROTEINS B; APOLIPOPROTEINS E; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; CHOLESTEROL, HDL; CHYLOMICRONS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; LIPOPROTEIN LIPASE; MALE; PEDIGREE; POINT MUTATION; POLYMORPHISM, GENETIC; TRIGLYCERIDES;

EID: 0029850257     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:4<381::AID-HUMU16>3.0.CO;2-Z     Document Type: Article

References (11)

1. Baginsky ML (1980) Postheparin lipolytic activity. Methods Enzymol 72:325-337.
2. Bijvoet SM, Wiebusch H, Ma Y, Reymer PWA, Bruin T, Bakker HD, Funke H, Assmann G, Hayden MR, Kastelein JJP (1995) Lipoprotein lipase deficiency in the Netherlands: Identification of compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250Asn; Ser251Cys). Neth J Med, in press.
3. Bruin T, Tuzgol S, van Diermen DE, Hoogerbrugge van der Linden N, Brunzell JD, Hayden MR, Kastelein JJP (1993) Recurrent pancreatitis and chylomicronemia in anextended Dutch kindred is caused by a Gly154Ser substitution in lipoprotein lipase. J Lipid Res 34:2109-2119.
4. Brunzell JD (1995) Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic and Molecular Basis of Inherited Disease." New York: McGraw-Hill, pp 1913-1932.
5. Havel RJ, Kane JP, Kashyap ML (1973) Interchange of apolipoproteins between chylomicrons and high density lipoprotein during alimentary lipemia in man. J Clin Invest 52:32-38.
6. Hill JS, Pritchard PH (1990) Improved phenotyping of apolipopro-tein E: Application to population frequency distribution. Clin Chem 36:1871-1874.
7. Hultman T, Bergh S, Moks T, Uhlen M (1991) Bidirectional solid phase sequencing of in vitro amplified plasmid DNA. BioTechniques 10:84-93.
8. Ishimura Oka K, Semenkovich CF, Faustinella F, Goldberg IJ, Shachter N, Smith LC, Coleman T, Hide WA, Brown WV, Oka K, Chan L (1992) A missense (Asp250 → Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. J Lipid Res 33:745-754.
9. Ma Y, Wilson BI, Bijvoet S, Henderson HE, Cramb E, Roederer G, Yen Murthy MR, Julien P, Bakker HD, Kastelein JJP, Brunzell JD, Hayden MR (1992) A missense mutation (Asp250Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries. Genomics 13:649-653.
10. Previato L, Guardamagna O, Dugi KA, Ronan R, Talley GD, Santamarina-Fojo S, Brewer Jr HB (1994) A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410Val) leads to enzyme inactivation and familial chylomicronemia. J Lipid Res 35:1552-1560.
11. Sandkamp M, Tambyrajah B, Schriever H, Assmann G (1988) Simplified turbidimetric determination of apolipoproteins A-I, A-II, and B using a microtitre method. J Clin Chem Clin Biochem 26:685-689.