Article
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
American journal of human genetics - 7 May 2020
Choufani Sanaa, Gibson William T, Turinsky Andrei L, Chung Brian H Y, Wang Tianren, Garg Kopal, Vitriolo Alessandro, Cohen Ana S A, Cyrus Sharri, Goodman Sarah, Chater-Diehl Eric, Brzezinski Jack, Brudno Michael, Ming Luk Ho, White Susan M, Lynch Sally Ann, Clericuzio Carol, Temple I Karen, Flinter Frances, McConnell Vivienne, Cushing Tom, Bird Lynne M, Splitt Miranda, Kerr Bronwyn, Scherer Stephen W, Machado Jerry, Imagawa Eri, Okamoto Nobuhiko, Matsumoto Naomichi, Testa Guiseppe, Iascone Maria, Tenconi Romano, Caluseriu Oana, Mendoza-Londono Roberto, Chitayat David, Cytrynbaum Cheryl, Tatton-Brown Katrina, Weksberg Rosanna
Abstract excerpt
Weaver syndrome (WS), an overgrowth/intellectual disability syndrome (OGID), is caused by pathogenic variants in the histone methyltransferase EZH2, which encodes a core component of the Polycomb repressive complex-2 (PRC2). Using genome-wide DNA methylation (DNAm) data for 187 individuals with OGID and 969 control subjects, we show that pathogenic variants in EZH2 generate a highly specific and sensitive DNAm...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.