Familial moderate hypercholesterolemia caused by Asp235→Glu mutation of the LDL receptor gene and co-occurrence of a de novo deletion of the LDL receptor gene in the same family

Abstract

We identified a large family in which a hitherto unreported point mutation of the LDL receptor gene (Asp235→Glu) cosegregated with moderately elevated serum LDL cholesterol concentration. Within one generation, the mean serum total and LDL cholesterol levels in four heterozygous carriers of this mutation (7.76 ± 1.46 and 5.89 ± 1.56 mmol/L, respectively) were significantly (P