An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.

Background: Familial Hypercholesterolemia (FH), the most common form of autosomal co-dominant hypercholesterolemia, is due to mutations in the LDLR gene, mostly minute or point mutations in the coding sequence.

Methods: Analysis of LDLR gene was performed by direct resequencing and multiplex ligation-dependent probe amplification (MLPA).

Results: LDLR gene resequencing showed that proband I.