Article
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2022
de Boer Elke, Ockeloen Charlotte W, Kampen Rosalie A, Hampstead Juliet E, Dingemans Alexander J M, Rots Dmitrijs, Lütje Lukas, Ashraf Tazeen, Baker Rachel, Barat-Houari Mouna, Angle Brad, Chatron Nicolas, Denommé-Pichon Anne-Sophie, Devinsky Orrin, Dubourg Christèle, Elmslie Frances, Elloumi Houda Zghal, Faivre Laurence, Fitzgerald-Butt Sarah, Geneviève David, Goos Jacqueline A C, Helm Benjamin M, Kini Usha, Lasa-Aranzasti Amaia, Lesca Gaetan, Lynch Sally A, Mathijssen Irene M J, McGowan Ruth, Monaghan Kristin G, Odent Sylvie, Pfundt Rolph, Putoux Audrey, van Reeuwijk Jeroen, Santen Gijs W E, Sasaki Erina, Sorlin Arthur, van der Spek Peter J, Stegmann Alexander P A, Swagemakers Sigrid M A, Valenzuela Irene, Viora-Dupont Eléonore, Vitobello Antonio, Ware Stephanie M, Wéber Mathys, Gilissen Christian, Low Karen J, Fisher Simon E, Vissers Lisenka E L M, Wong Maggie M K, Kleefstra Tjitske
Abstract excerpt
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 clinical, molecular, and functional spectra of ANKRD11 missense variants. METHODS: We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We...
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