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Genetic Testing for Autosomal Dominant Hypercholesterolemia



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LDLR Gene

Slide 8

December 2008

LDLR mutations are most commonly missense mutations, meaning that they result in a change from one amino acid to a different amino acid. It is important to note that a significant percentage of LDLR mutations are due to genomic rearrangements. This is caused by a recombination between Alu-repeat elements within and near the LDLR gene. These genomic rearrangements lead to deletions and duplications of exons. It has been demonstrated that different mutations will have different clinical phenotypes and the same mutation can lead to variability in phenotypic severity, both within and between families. Thus there is a significant level of clinical variability among individuals with genetically defined FH.

LDLR Gene

 


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