title: Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study.
abstract: BACKGROUND
  Familial defective apolipoprotein B-100, a dominantly inherited form of hypercholesterolemia caused by a single Arg3500Gln mutation, is silent in childhood but may confer a high risk of cardiovascular disease in adulthood. The objective was to determine the prevalence of familial defective apolipoprotein B-100 in hypercholesterolemic French children and to provide a basis for targeting screening efforts in this population.
  
  
  METHODS
  One hundred ninety children attending 13 pediatric clinics distributed throughout France were included based on the presence of type IIa hypercholesterolemia with a plasma low-density lipoprotein-cholesterol level of more than 130 mg/dL. The Arg3500Gln mutation was detected in dried blood spots using a polymerase chain reaction assay combined with enzymatic restriction.
  
  
  RESULTS
  Three hyperlipidemia phenotypes were found: monogenic dominant pure hypercholesterolemia (n = 117), polygenic hypercholesterolemia (n = 43), and combined hyperlipidemia (n = 11). Three unrelated children were heterozygous for the Arg3500Gln mutation; all three had monogenic dominant pure hypercholesterolemia (3/94 families; 3.2%), yielding a prevalence of 1.83% (3/164) in hypercholesterolemic children, which is similar to prevalences reported in European adults.
  
  
  CONCLUSIONS
  The familial defective apolipoprotein B-100 mutation was common (1/31) in children with a phenotype of familial hypercholesterolemia, supporting screening in this population with the goal of preventing premature cardiovascular events.
authors.affiliation: Department of Pediatric Gastroenterology and Nutrition, Armand-Trousseau Children's Teaching Hospital, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Viola
authors.forename: P
authors.initials: P
authors.lastname: Benlian
authors.forename: A
authors.initials: A
authors.lastname: Morali
authors.forename: D
authors.initials: D
authors.lastname: Dobbelaere
authors.forename: F
authors.initials: F
authors.lastname: Lacaille
authors.forename: D
authors.initials: D
authors.lastname: Rieu
authors.forename: J L
authors.initials: JL
authors.lastname: Ginies
authors.forename: C
authors.initials: C
authors.lastname: Maurage
authors.forename: M
authors.initials: M
authors.lastname: Meyer
authors.forename: A
authors.initials: A
authors.lastname: Lachaux
authors.forename: M
authors.initials: M
authors.lastname: Larchet
authors.forename: C
authors.initials: C
authors.lastname: Lenearts
authors.forename: O
authors.initials: O
authors.lastname: Goulet
authors.forename: J
authors.initials: J
authors.lastname: Sarles
authors.forename: O
authors.initials: O
authors.lastname: Mouterde
authors.forename: J P
authors.initials: JP
authors.lastname: Girardet
mesh_terms: D000293:Adolescent; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D002318:Cardiovascular Diseases / Q000209:etiology / Q000235:genetics / Q000517:prevention & control*; D002648:Child; D002675:Child, Preschool; D008078:Cholesterol, LDL / Q000097:blood*; D005260:Female; D005602:France; D005787:Gene Frequency; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D015995:Prevalence; D015183:Restriction Mapping; D012307:Risk Factors
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D008078:Cholesterol, LDL