Nature Communications (Nov 2018)
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
- Erfan Aref-Eshghi,
- Eric G. Bend,
- Rebecca L. Hood,
- Laila C. Schenkel,
- Deanna Alexis Carere,
- Rana Chakrabarti,
- Sandesh C. S. Nagamani,
- Sau Wai Cheung,
- Philippe M. Campeau,
- Chitra Prasad,
- Victoria Mok Siu,
- Lauren Brady,
- Mark A. Tarnopolsky,
- David J. Callen,
- A. Micheil Innes,
- Susan M. White,
- Wendy S. Meschino,
- Andrew Y. Shuen,
- Guillaume Paré,
- Dennis E. Bulman,
- Peter J. Ainsworth,
- Hanxin Lin,
- David I. Rodenhiser,
- Raoul C. Hennekam,
- Kym M. Boycott,
- Charles E. Schwartz,
- Bekim Sadikovic
Affiliations
- Erfan Aref-Eshghi
- Department of Pathology and Laboratory Medicine, Western University
- Eric G. Bend
- Prevention Genetics
- Rebecca L. Hood
- Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
- Laila C. Schenkel
- Department of Pathology and Laboratory Medicine, Western University
- Deanna Alexis Carere
- Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre
- Rana Chakrabarti
- Children’s Health Research Institute
- Sandesh C. S. Nagamani
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Sau Wai Cheung
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Philippe M. Campeau
- Department of Pediatrics, University of Montreal
- Chitra Prasad
- Children’s Health Research Institute
- Victoria Mok Siu
- Children’s Health Research Institute
- Lauren Brady
- Department of Pediatrics, McMaster University
- Mark A. Tarnopolsky
- Department of Pediatrics, McMaster University
- David J. Callen
- Department of Pediatrics, McMaster University
- A. Micheil Innes
- Department of Medical Genetics, Alberta Children’s Hospital Research Institute for Child and Maternal Health, University of Calgary
- Susan M. White
- Department of Paediatrics, University of Melbourne
- Wendy S. Meschino
- Genetics Program, North York General Hospital
- Andrew Y. Shuen
- Children’s Health Research Institute
- Guillaume Paré
- Department of Pathology and Molecular Medicine, McMaster University
- Dennis E. Bulman
- Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
- Peter J. Ainsworth
- Department of Pathology and Laboratory Medicine, Western University
- Hanxin Lin
- Department of Pathology and Laboratory Medicine, Western University
- David I. Rodenhiser
- Children’s Health Research Institute
- Raoul C. Hennekam
- Department of Pediatrics, Academic Medical Center, University of Amsterdam
- Kym M. Boycott
- Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
- Charles E. Schwartz
- Greenwood Genetic Center
- Bekim Sadikovic
- Department of Pathology and Laboratory Medicine, Western University
- DOI
- https://doi.org/10.1038/s41467-018-07193-y
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 15
Abstract
Mutations in genes encoding subunits of the BAF complex can cause Coffin–Siris and Nicolaides–Baraitser syndromes. Here the authors identify overlapping DNA methylation signatures in individuals with subtypes of these two syndromes that suggest a functional link and can be used to diagnose subjects with unclear clinical presentations.
