FH TULSA-1 AND TULSA-2 - 2 UNIQUE ALLELES FOR FAMILIAL HYPERCHOLESTEROLEMIA PRESENTING IN AN AFFECTED 2-YEAR-OLD AFRICAN-AMERICAN MALE

A two-year-old African American boy presented with cutaneous xanthomat a and extreme hypercholesterolemia. Subsequent studies revealed that t he LDL-cholesterol was 1,001 mg/dl and apoB 507 mg/dl. LDL-receptor ac tivity was almost undetectable, which is compatible with the finding o f two newly described defective alleles on exon 4 of the LDL-receptor gene coding for part of the Ligand-binding domain. One allele containe d 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. (C) 1995 Wiley-Liss, In c.