A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia

Clinical Science

Volumn 99, Issue 6, 2000, Pages 569-578

  Ikeda, Y ^a   Goji, K ^a   Takagi, A ^a  

^a NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

Author keywords

Compound heterozygous LPL deficiency; Hyperchylomicronaemia; Hypertriglyceridaemia; LPL gene mutation; Markit F LPL; Type I hyperlipoproteinaemia

Indexed keywords

LIPOPROTEIN LIPASE;

ADULT; ARTICLE; CASE REPORT; CHILD; ENZYME ACTIVITY; FEMALE; HETEROZYGOTE; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; JAPAN; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; DNA, COMPLEMENTARY; EXONS; GENE EXPRESSION; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; INFANT; LIPOPROTEIN LIPASE; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA;

EID: 0034538463     PISSN: 01435221     EISSN: None     Source Type: Journal    
DOI: 10.1042/CS20000134     Document Type: Article

References (31)

1. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome
2. Purification and characterization of lipoprotein lipase and hepatic triglyceride lipase from human postheparin plasma: Production of monospecific antibody to the individual lipase
3. Human lipoprotein lipase complementary DNA sequence
4. Human genes involved in lipolysis of plasma lipoproteins: Mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21
5. Structure of the human lipoprotein lipase gene
6. Organization of the human lipoprotein lipase gene and evolution of the lipase gene family
7. Structure and polymorphic map of human lipoprotein lipase gene
8. Lipoproteins and lipid transport
9. Lipoprotein lipase and hepatic lipase
10. A sandwichenzyme immunoassay for the quantification of lipoprotein lipasc and hepatic triglyceride lipase in human postheparin plasma using monoclonal antibodies to the corresponding enzymes
11. Selective measurement of two lipase activities in postheparin plasma from normal subjects and patients with hyperlipoproteinemia
12. Detection and characterization of the heterozygote state for lipoprotein lipase deficiency
13. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
14. Molecular pathobiology of the human lipoprotein lipase gene
15. Practical methods for plasma lipoprotein analysis
16. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI
17. DNA sequence of lipoprotein lipase cDNA cloned from human monocytic leukemia THP- 1 cells
18. Molecular Cloning: A Laboratory Manual
19. Identification of two new alleles at the lipoprotein lipase (LPL) short tandem repeat (STR) locus results in seven polymorphic alleles in the Japanese population: Allele frequency data in comparison with Caucasian populations
20. 916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript
21. A newly identified heterozygous lipoprotein lipase gene mutation Cys239 → stop/TGC972 → TGA; LPLobama) in a patient with primary type IV hyperlipoproteinemia
22. Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency
23. Effects of gene mutations in lipoprotein and hepatic lipases as interpreted by a molecular model of the panereatic triglyceride lipase
24. Structure, function and role of lipoprotein lipase in lipoprotein metabolism
25. Structure of human pancreatic lipase
26. Lipoprotein lipase. Molecular model based on the pancreatic lipase x-ray structure: Consequences for heparin binding and catalysis
27. A compound heterozygote for lipoprotein lipase deficiency, Val69 → Leu and Gly188 → Glu: Correlation between in vitro LPL activity and clinical expression
28. Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes
29. A missense mutation (Trp86 → Arg) in exon 3 of the lipoprotein lipase gene: A cause of familial chylomicronemia
30. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene
31. Structure and evolution of the lipase superfamily