Missense variants in <i>ANKRD11</i> cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

de Boer, Elke; W. Ockeloen, Charlotte; A. Kampen, Rosalie; E. Hampstead, Juliet; J.M. Dingemans, Alexander; Rots, Dmitrijs; Lütje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat‐Houari, Mouna; Angle, Brad; Chatron, Nicolas; DDD study, The; Denommé‐Pichon, Anne‐Sophie; Devinsky, Orrin; Dubourg, Christèle; Elmslie, Frances; Zghal Elloumi, Houda; Faivre, Laurence; Fitzgerald-Butt, Sarah; Geneviève, David; A.C. Goos, Jacqueline; M. Helm, Benjamin; M. van de Kamp, Jiddeke; Kini, Usha; Lasa‐Aranzasti, Amaia; Lesca, Gaëtan; Ann Lynch, Sally; M.J. Mathijssen, Irene; McGowan, Ruth; G. Monaghan, Kristin; Odent, Sylvie; Pfundt, Rolph; Putoux, Audrey; van Reeuwijk, Jeroen; W.E. Santen, Gijs; Sasaki, Erina; Sivanathan, Jesitha; Sorlin, Arthur; J. van der Spek, Peter; P.A. Stegmann, Alexander; M. A. Swagemakers, Sigrid; Valenzuela, Irene; Viora‐Dupont, Eléonore; Vitobello, Antonio; M. Ware, Stephanie; Wéber, Mathys; Gilissen, Christian; Low, Karen; E. Fisher, Simon

doi:10.1101/2021.12.20.21267971

Public

Missense variants in <i>ANKRD11</i> cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Shared by NobleBlocks on Dec 22, 2021 • 12:00 AM UTC

Authors:

Elke de Boer

Charlotte W. Ockeloen

Rosalie A. Kampen

Abstract

Abstract Purpose Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized the clinical, molecular and functional spectra of ANKRD11 missense variants. Methods We colle...

Subject

Missense mutation

Haploinsufficiency

Phenotype

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