title: Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation.
abstract: OBJECTIVE
  Deficiency in the catabolism of triglyceride-rich lipoproteins is the main cause of childhood-onset chylomicronaemia syndrome. Missense mutations in lipoprotein lipase (LPL) or in proteins influencing LPL activity or stability have been shown to be critical determinants of chylomicronaemia syndrome. The main objective of this study was to assess the primary deficiency in five cases of childhood-onset chylomicronaemia syndrome.
  
  
  METHODS
  Lipid clinic at a university hospital,
  
  
  METHODS
  Subjects presenting with severe hypertriglyceridaemia and chylomicronaemia syndrome in which reduced LPL activity and mass were observed.
  
  
  METHODS
  Analysis of LPL and GPIHBP1 genes.
  
  
  RESULTS
  Amongst the five patients, one novel homozygous missense mutation (p.C68Y) in exon 3 of GPIHBP1 was identified. The other four patients were homozygous for the common LPL mutation p.G188E.
  
  
  CONCLUSIONS
  These findings provide further evidence that GPIHBP1 is involved in the catabolism of triglyceride-rich lipoproteins and plays a role in childhood-onset chylomicronaemia.
authors.affiliation: Lipid Unit, Internal Medicine, Hospital Virgen de la Victoria and Department of Medicine & Dermatology, Malaga University, Malaga, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Coca-Prieto
authors.forename: O
authors.initials: O
authors.lastname: Kroupa
authors.forename: P
authors.initials: P
authors.lastname: Gonzalez-Santos
authors.forename: J
authors.initials: J
authors.lastname: Magne
authors.forename: G
authors.initials: G
authors.lastname: Olivecrona
authors.forename: E
authors.initials: E
authors.lastname: Ehrenborg
authors.forename: P
authors.initials: P
authors.lastname: Valdivielso
mesh_terms: D017668:Age of Onset; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002914:Chylomicrons / Q000097:blood* / Q000235:genetics; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D015228:Hypertriglyceridemia / Q000097:blood*; D008071:Lipoprotein Lipase / Q000097:blood* / Q000235:genetics / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense; D018110:Receptors, Lipoprotein; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D002914:Chylomicrons; C523701:GPIHBP1 protein, human; D018110:Receptors, Lipoprotein; C548261:LPL protein, human; D008071:Lipoprotein Lipase