Article
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
American journal of human genetics - 6 Mar 2025
Verbinnen Iris, Douzgou Houge Sofia, Hsieh Tzung-Chien, Lesmann Hellen, Kirchhoff Aron, Geneviève David, Brimble Elise, Lenaerts Lisa, Haesen Dorien, Levy Rebecca J, Thevenon Julien, Faivre Laurence, Marco Elysa, Chong Jessica X, Bamshad Mike, Patterson Karynne, Mirzaa Ghayda M, Foss Kimberly, Dobyns William, White Susan M, Pais Lynn, O'Heir Emily, Itzikowitz Raphaela, Donald Kirsten A, Van der Merwe Celia, Mussa Alessandro, Cervini Raffaela, Giorgio Elisa, Roscioli Tony, Dias Kerith-Rae, Evans Carey-Anne, Brown Natasha J, Ruiz Anna, Trujillo Quintero Juan Pablo, Rabin Rachel, Pappas John, Yuan Hai, Lachlan Katherine, Thomas Simon, Devlin Anita, Wright Michael, Martin Richard, Karwowska Joanna, Posmyk Renata, Chatron Nicolas, Stark Zornitza, Heath Oliver, Delatycki Martin, Buchert Rebecca, Korenke Georg-Christoph, Ramsey Keri, Narayanan Vinodh, Grange Dorothy K, Weisenberg Judith L, Haack Tobias B, Karch Stephanie, Kipkemoi Patricia, Mangi Moses, Bindels de Heus Karen G C B, de Wit Marie-Claire Y, Barakat Tahsin Stefan, Lim Derek, Van Winckel Géraldine, Spillmann Rebecca C, Shashi Vandana, Jacob Maureen, Stehr Antonia M, Krawitz Peter, Douzgos Houge Gunnar, Janssens Veerle
Abstract excerpt
Pathogenic variants resulting in protein phosphatase 2A (PP2A) dysfunction result in mild to severe neurodevelopmental delay. PP2A is a trimer of a catalytic (C) subunit, scaffolding (A) subunit, and substrate binding/regulatory (B) subunit, encoded by 19 different genes. De novo missense variants in PPP2R5D (B56δ) or PPP2R1A (Aα) and de novo missense and loss-of-function variants in PPP2CA (Cα) lead to syndromes...
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