THE T7051 MUTATION OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE (FH PARIS-9) DOES NOT CAUSE FAMILIAL HYPERCHOLESTEROLEMIA

Familial hypercholesterolemia (FH) is a genetic disease caused by muta tions in the low-density lipoprotein receptor gene. Among the more tha n 200 mutations so far identified, the T705I substitution in exon 15, designated FH-Paris 9, has been previously described as an FH-causing mutation. During the course of denaturing gradient gel electrophoretic screening of exon 15 we have identified the T705I single-base substit ution not only in an FH family but also in a control, normocholesterol emic population. Therefore, we conclude that FH-Paris 9 is a missense mutation not associated with FH.