title: FH Tulsa-1 and -2: two unique alleles for familial hypercholesterolemia presenting in an affected two-year-old African-American male.
abstract: A two-year-old African American boy presented with cutaneous xanthomata and extreme hypercholesterolemia. Subsequent studies revealed that the LDL-cholesterol was 1,001 mg/dl and apoB 507 mg/dl. LDL-receptor activity was almost undetectable, which is compatible with the finding of two newly described defective alleles on exon 4 of the LDL-receptor gene coding for part of the ligand-binding domain. One allele contained a 21 base-pair insertion from codon 200 to 207 whereas the other had a point mutation at codon 207. The rarity of genes for FH reported in individuals of African ancestry is discussed.
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City 73190, USA.
authors.forename: P R
authors.initials: PR
authors.lastname: Blackett
authors.forename: D H
authors.initials: DH
authors.lastname: Altmiller
authors.forename: D
authors.initials: D
authors.lastname: Jelley
authors.forename: D P
authors.initials: DP
authors.lastname: Wilson
mesh_terms: D000483:Alleles; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D008055:Lipids / Q000097:blood; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D011973:Receptors, LDL / Q000235:genetics*; D014973:Xanthomatosis / Q000209:etiology*; D001741:Black or African American
chemical_list: D003062:Codon; D008055:Lipids; D011973:Receptors, LDL