Table 4 Individual LDL-R characteristics of each FH patient those monocytes where analyzed by microarray.
From: Monocytes of patients with familial hypercholesterolemia show alterations in cholesterol metabolism
homozygous FH | Mutation |
|---|---|
Patient 1 | C88R (FH Münster 1), D333G (FH Münster 2); < 5% LDL-R activity, binding defect |
Patient 2 | W556R; < 5% receptor activity (class 2A) |
Patient 3 | W556R; < 5% receptor activity (class 2A) |
Patient 4 | W556R; < 5% receptor activity (class 2A) |
Patient 5 | LDL-R binding defect demonstrated by fibroblast LDL binding assay |
Patient 6–8 | Diagnosis based on clinical parameters according to the Simon Broome Register Group criteria (xanthomas, lipid profile, familial history) |
heterozygous FH | |
Patient 9 | promoter defect -135 bp C->G, 5–15% activity |
Patient 10 | C88R (FH Münster 1), 15–30% receptor activity binding defect |
Patient 11 | D333G (FH Münster 2), 15–30% receptor activity binding defect |
Patient 12 | C88R (FH Münster 1), 15–30% receptor activity binding defect |
Patient 13 | LDL-R binding defect demonstrated by fibroblast LDL binding assay |
Patient 14 | W556R; < 5% receptor activity (class 2A) |
Patient 15 | insertion of G at 588 bp -> STOP at codon 178 |
Patients 16 | insertion of G at 588 bp -> STOP at codon 178 |