Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in ... View Full Text


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Article Info

DATE

2018-12

AUTHORS

Laila C. Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles Schwartz, Bekim Sadikovic

ABSTRACT

Background: Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the KDM5C gene. Kdm5c is a histone lysine demethylase involved in histone modifications and chromatin remodeling. Males with hemizygous mutations in KDM5C present with intellectual disability and facial dysmorphism, while most heterozygous female carriers are asymptomatic. We hypothesized that loss of Kdm5c function may influence other components of the epigenomic machinery including DNA methylation in affected patients. Results: Genome-wide DNA methylation analysis of 7 male patients affected with Claes-Jensen syndrome and 56 age- and sex-matched controls identified a specific DNA methylation defect (epi-signature) in the peripheral blood of these patients, including 1769 individual CpGs and 9 genomic regions. Six healthy female carriers showed less pronounced but distinctive changes in the same regions enabling their differentiation from both patients and controls. Highly specific computational model using the most significant methylation changes demonstrated 100% accuracy in differentiating patients, carriers, and controls in the training cohort, which was confirmed on a separate cohort of patients and carriers. The 100% specificity of this unique epi-signature was further confirmed on additional 500 unaffected controls and 600 patients with intellectual disability and developmental delay, including other patient cohorts with previously described epi-signatures. Conclusion: Peripheral blood epi-signature in Claes-Jensen syndrome can be used for molecular diagnosis and carrier identification and assist with interpretation of genetic variants of unknown clinical significance in the KDM5C gene. More... »

PAGES

21

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13148-018-0453-8

DOI

http://dx.doi.org/10.1186/s13148-018-0453-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1101043650

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29456765


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326 https://www.grid.ac/institutes/grid.416847.8 schema:alternateName Victoria Hospital
327 schema:name Department of Pathology and Laboratory Medicine, Victoria Hospital, London Health Sciences Centre, 800 Commissioner’s Road E, B10-104, N6A 5W9, London, Ontario, Canada
328 Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada
329 Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, Ontario, Canada
330 rdf:type schema:Organization
 




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