title: Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent.
abstract: The enzyme lipoprotein lipase (LPL) plays a crucial role in triglyceride metabolism through catalysis of triglyceride-rich chylomicrons and very low density lipoproteins. Primary LPL deficiency manifests with chylomicronaemia and is caused by mutations in the LPL gene. In this paper we report a novel molecular defect (G670-->A) in exon 4 of the LPL gene, resulting in a substitution of serine for glycine at position 139 in the mature protein. We identified homozygosity for this mutation in a boy of Spanish descent. In vitro mutagenesis provided formal proof that this missense mutation completely abolishes LPL function and therefore is the cause of LPL deficiency.
authors.affiliation: Centre for Haemostasis, Thrombosis, Atherosclerosis and Inflammation Research, Academic Medical Centre, University of Amsterdam, The Netherlands.
authors.forename: S M
authors.initials: SM
authors.lastname: Bijvoet
authors.forename: T
authors.initials: T
authors.lastname: Bruin
authors.forename: S
authors.initials: S
authors.lastname: Tuzgöl
authors.forename: H D
authors.initials: HD
authors.lastname: Bakker
authors.forename: M R
authors.initials: MR
authors.lastname: Hayden
authors.forename: J J
authors.initials: JJ
authors.lastname: Kastelein
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002914:Chylomicrons / Q000097:blood*; D004247:DNA; D005260:Female; D005998:Glycine; D006720:Homozygote; D006801:Humans; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D009154:Mutation; D010375:Pedigree; D012694:Serine; D013030:Spain / Q000208:ethnology
chemical_list: D002914:Chylomicrons; D012694:Serine; D004247:DNA; D008071:Lipoprotein Lipase; D005998:Glycine