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Identification of Epigenetic Signature Associated With Alpha Thalassemia/Mental Retardation X-linked Syndrome
Epigenetics Chromatin
  • Laila C Schenkel, Western University
  • Kristin D Kernohan, University of Ottawa
  • Arran McBride, University of Ottawa
  • Ditta Reina, McMaster University
  • Amanda Hodge, McMaster University
  • Peter J Ainsworth, Western University
  • David I Rodenhiser, Western University
  • Guillaume Pare, McMaster University
  • Nathalie G Bérubé, Western University
  • Cindy Skinner, Greenwood Genetic Center
  • Kym M Boycott, University of Ottawa
  • Charles Schwartz, Greenwood Genetic Center
  • Bekim Sadikovic, Western University
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BACKGROUND: Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene

RESULTS: We performed genome-wide DNA methylation assessment of the peripheral blood samples from 18 patients with ATR-X and compared it to 210 controls. We demonstrated the evidence of a unique and highly specific DNA methylation "epi-signature" in the peripheral blood of ATRX patients, which was corroborated by targeted bisulfite sequencing experiments. Although genomically represented, differentially methylated regions showed evidence of preferential clustering in pericentromeric and telometric chromosomal regions, areas where ATRX has multiple functions related to maintenance of heterochromatin and genomic integrity.

CONCLUSION: Most significant methylation changes in the 14 genomic loci provide a unique epigenetic signature for this syndrome that may be used as a highly sensitive and specific diagnostic biomarker to support the diagnosis of ATR-X, particularly in patients with phenotypic complexity and in patients with


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Laila C Schenkel, Kristin D Kernohan, Arran McBride, Ditta Reina, et al.. "Identification of Epigenetic Signature Associated With Alpha Thalassemia/Mental Retardation X-linked Syndrome" Epigenetics Chromatin Vol. 10 (2017)
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