Article
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.
European journal of human genetics : EJHG - 1 Jun 2026
Sabbagh Quentin, Cenni Camille, Haghshenas Sadegheh, Alessandri Jean-Luc, Bak Mads, Bayat Allan, Barat-Houari Mouna, Brusco Alfredo, Busa Tiffany, Calaya Anaïs, Calvert Paige, Cormier-Daire Valérie, Coubes Christine, Duffourd Yannis, Ferrero Giovanni B, Guimier Anne, Haye Damien, Hjortshøj Tina Duelund, Lambert Laetitia, Larsen Karen Bonde, Lauzon-Young Carolyn, Lesca Gaetan, Chatron Nicolas, Levy Michael A, Lopergolo Diego, Margot Henri, McConkey Haley, Monin Pauline, Morel Godelieve, Naudion Sophie, Nizon Mathilde, Odent Sylvie, Pinson Lucile, Pons Linda, Putoux Audrey, Rio Marlène, Rossi Massimiliano, Rouaux Lucie, Rouxel Flavien, Ruiz-Pallares Nathalie, Sanchez Elodie, Pagano Stefano, Santorelli Filippo M, Sauvestre Clément, Schymick Jennifer C, Siu Victoria Mok, Spodenkiewicz Marta, Tedder Matthew, Tharreau Mylène, Mau-Them Frédéric Tran, Tümer Zeynep, Valenzuela Irene, Van Gils Julien, Willems Marjolaine, Kirchhoff Aron, Krawitz Peter, Kerkhof Jennifer, Schuurs-Hoeijmakers Janneke H M, Sadikovic Bekim, Geneviève David
Abstract excerpt
PACS1-related disorder (PACS1-RD), also known as Schuurs-Hoeijmakers syndrome, is a rare autosomal dominant neurodevelopmental disorder predominantly caused by the recurrent de novo c.607 C > T p.(Arg203Trp) gain-of-function variant. Although core clinical features have been delineated, systematic data on developmental milestones, growth parameters, and clinical variability remain limited. We assembled a series...
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