title: Familial hypercholesterolemia due to ligand-defective apolipoprotein B100: first case report in a Mexican family.
abstract: BACKGROUND
  Familial defective apolipoprotein B100 (FDB) is one of the known causes of familial hypercholesterolemia (FH). Its frequency among subjects with FH varies among ethnic groups; information on FH is insufficient for populations from Latin America. We proposed to describe prevalence of FDB in a cohort of Mexican FH probands (n = 30).
  
  
  METHODS
  We searched for the known FDB mutations using polymerase chain reaction assays. In this set of patients, mean lipid values were representative of FH (cholesterol 351 mg/dL, LDL cholesterol 274 mg/dL, HDL cholesterol 51 mg/dL, and triglycerides 132 mg/dL).
  
  
  RESULTS
  One subject with Arg3500Gln mutation was found: a 44-year-old male with a history of coronary heart disease (CHD) among paternal relatives. His lipid profile was cholesterol 370 mg/dL, LDL-cholesterol 300 mg/dL, HDL-cholesterol 32 mg/dL, and triglycerides 189 mg/dL. Tendinous xanthomata were detected. Three of four siblings, one of three sons, and one of nine nieces and nephews carried the mutation. The mutation was confirmed by automated sequencing. Tendinous xanthomata were absent in affected subjects younger than age 20 years; additionally, the subjects had borderline cholesterol levels.
  
  
  CONCLUSIONS
  Our data suggest that FDB explains the small number of FH cases in Mexico. Inclusion of molecular biology assays to the clinical laboratory makes it possible to diagnose affected individuals with borderline cholesterol levels or without tendinous xanthomata.
authors.affiliation: Departamento de Endocrinologi;a y Metabolismo, Instituto Nacional de Ciencias Médicas y de Nutrición Salvador Zubirán, Mexico City, Mexico.
authors.forename: Ludivina
authors.initials: L
authors.lastname: Robles-Osorio
authors.forename: Ma Luisa
authors.initials: ML
authors.lastname: Ordoñez
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Aguilar-Salinas
authors.forename: Moisés
authors.initials: M
authors.lastname: Aurón-Gómez
authors.forename: Ma Teresa
authors.initials: MT
authors.lastname: Tusié-Luna
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Gómez-Pérez
authors.forename: Juan A
authors.initials: JA
authors.lastname: Rull-Rodrigo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics / Q000378:metabolism*; D002648:Child; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism*; D008055:Lipids / Q000097:blood; D008297:Male; D008800:Mexico / Q000453:epidemiology; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D008055:Lipids