Article
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
American journal of human genetics - 6 Oct 2016
Shashi Vandana, Pena Loren D M, Kim Katherine, Burton Barbara, Hempel Maja, Schoch Kelly, Walkiewicz Magdalena, McLaughlin Heather M, Cho Megan, Stong Nicholas, Hickey Scott E, Shuss Christine M, Freemark Michael S, Bellet Jane S, Keels Martha Ann, Bonner Melanie J, El-Dairi Maysantoine, Butler Megan, Kranz Peter G, Stumpel Constance T R M, Klinkenberg Sylvia, Oberndorff Karin, Alawi Malik, Santer Rene, Petrovski Slavé, Kuismin Outi, Korpi-Heikkilä Satu, Pietilainen Olli, Aarno Palotie, Kurki Mitja I, Hoischen Alexander, Need Anna C, Goldstein David B, Kortüm Fanny
Abstract excerpt
The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe...
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