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Pseudoxanthoma elasticum: genetic diagnostic markers
Ellen G Pfendner1, Jouni Uitto, Gary F Gerard
1PXE International, Washington, DC, USA.
Expert Opinion on Medical Diagnostics
|March 15, 2013
Summary
Pseudoxanthoma elasticum (PXE) is a genetic disorder affecting elastic fibers. This review summarizes ABCC6 gene mutations and outlines a strategy for improved mutation detection in PXE patients.
Area of Science:
- Genetics
- Molecular Biology
- Medical Science
Background:
- Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder.
- PXE affects the eyes, skin, and cardiovascular system due to ectopic mineralization of elastic fibers.
- Mutations in the ATP-binding cassette family C member 6 (ABCC6) gene are responsible for PXE.
Purpose of the Study:
- To review the mutation spectrum in Pseudoxanthoma elasticum (PXE).
- To outline an optimized strategy for mutation detection in PXE.
- To address the challenges in accurately sequencing the ABCC6 gene due to pseudogenes.
Main Methods:
- Review of published literature on ABCC6 gene mutations in PXE.
- Analysis of sequence differences between the ABCC6 gene and its pseudogenes.
- Development of a strategy for accurate mutation detection.
Main Results:
- A comprehensive summary of the known mutation spectrum in the ABCC6 gene for PXE.
- Identification of challenges in mutation detection, including the presence of pseudogenes.
- A proposed strategy to improve the accuracy and efficiency of mutation detection.
Conclusions:
- Accurate mutation detection in PXE is crucial for diagnosis and understanding the disorder.
- Distinguishing the ABCC6 gene from its pseudogenes is essential for reliable genetic testing.
- The outlined strategy aims to enhance mutation detection rates and diagnostic yield in PXE.
