Genetic Testing for Autosomal Dominant Hypercholesterolemia
LDLR Gene
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 |
Jump to section:
- Introduction
- Autosomal Dominant Hypercholesterolemia
- Autosomal Dominant Hypercholesterolemia
- Autosomal Dominant Hypercholesterolemia
- Familial Hypercholesterolemia
- FH-Primary Defect in LDLR
- LDLR Gene
- LDLR Gene
- Familial Defective ApoB-100
- How is ADH Diagnosed?
- Impact of Failure to Diagnose
- Why is Genetic Testing for ADH Useful?
- Statin Treatment-How Early?
- ADH-Genetic Testing Methodology
- Familial/Autosomal Dominant Hypercholesterolemia Diagnostic Algorithm
- APOB-Targeted Genotyping Performed First
- APOB Mutation-Positive
- APOB Mutation-Negative
- LDLR Sequence Mutation-Positive
- LDLR Sequence Mutation-Negative
- LDLR Large Del/Dup Mutation-Positive
- LDLR Large Del/Dup Mutation-Negative
- Summary
- Conclusion
- Questions?
External
link
PDF
document
Excel
document
Word
document