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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

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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
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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.

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

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.