Article
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
American journal of human genetics - 4 May 2017
Butcher Darci T, Cytrynbaum Cheryl, Turinsky Andrei L, Siu Michelle T, Inbar-Feigenberg Michal, Mendoza-Londono Roberto, Chitayat David, Walker Susan, Machado Jerry, Caluseriu Oana, Dupuis Lucie, Grafodatskaya Daria, Reardon William, Gilbert-Dussardier Brigitte, Verloes Alain, Bilan Frederic, Milunsky Jeff M, Basran Raveen, Papsin Blake, Stockley Tracy L, Scherer Stephen W, Choufani Sanaa, Brudno Michael, Weksberg Rosanna
Abstract excerpt
Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes, result from loss of function mutations in chromodomain helicase DNA-binding protein 7 (CHD7LOF) and lysine (K) methyltransferase 2D (KMT2DLOF), respectively. Although these two syndromes are clinically distinct, there is significant phenotypic overlap. We...
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