title: The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark.
abstract: Mutations in the gene for the low density lipoprotein (LDL) receptor cause the autosomal dominant disease familial hypercholesterolemia (FH), the prevalence of which is about 0.2% in most populations. By PCR-SSCP analysis and direct sequencing, we identified the receptor-negative Trp23-Stop LDL receptor mutation (FH Cincinnati-5) in 10 of 63 FH probands and the receptor-defective Trp66-Gly LDL receptor mutation (FH French Canadian-4) in another 10 of the 63 FH probands. These two mutations thus account for 30% of diagnosed FH families in Denmark. Comparison of the mean lipid concentrations (unadjusted and adjusted for age), including serum total cholesterol and LDL-cholesterol, showed no significant differences between the two groups of FH heterozygote probands (cholesterol: 10.7 mmol/l vs. 10.7 mmol/l) and between the probands and 16 and 22 non-proband family members with the Trp23-stop (cholesterol: 10.1 mmol/l) ad Trp66-Gly (cholesterol: 10.7 mmol/l) mutations, respectively.
authors.affiliation: Center for Medical Molecular Biology, Skejby Sygehus University Hospital, Arhus N, Denmark.
authors.forename: H K
authors.initials: HK
authors.lastname: Jensen
authors.forename: L G
authors.initials: LG
authors.lastname: Jensen
authors.forename: P S
authors.initials: PS
authors.lastname: Hansen
authors.forename: O
authors.initials: O
authors.lastname: Faergeman
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D002170:Canada / Q000453:epidemiology; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D003718:Denmark / Q000453:epidemiology; D005260:Female; D005602:France / Q000208:ethnology; D005787:Gene Frequency; D005796:Genes; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D015995:Prevalence; D011973:Receptors, LDL / Q000235:genetics*; D014280:Triglycerides / Q000097:blood
chemical_list: D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D003062:Codon; D011973:Receptors, LDL; D014280:Triglycerides; D002784:Cholesterol