Article
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Genome medicine - 30 May 2024
Bassani Sissy, Chrast Jacqueline, Ambrosini Giovanna, Voisin Norine, Schütz Frédéric, Brusco Alfredo, Sirchia Fabio, Turban Lydia, Schubert Susanna, Abou Jamra Rami, Schlump Jan-Ulrich, DeMille Desiree, Bayrak-Toydemir Pinar, Nelson Gary Rex, Wong Kristen Nicole, Duncan Laura, Mosera Mackenzie, Gilissen Christian, Vissers Lisenka E L M, Pfundt Rolph, Kersseboom Rogier, Yttervik Hilde, Hansen Geir Åsmund Myge, Smeland Marie Falkenberg, Butler Kameryn M, Lyons Michael J, Carvalho Claudia M B, Zhang Chaofan, Lupski James R, Potocki Lorraine, Flores-Gallegos Leticia, Morales-Toquero Rodrigo, Petit Florence, Yalcin Binnaz, Tuttle Annabelle, Elloumi Houda Zghal, McCormick Lane, Kukolich Mary, Klaas Oliver, Horvath Judit, Scala Marcello, Iacomino Michele, Operto Francesca, Zara Federico, Writzl Karin, Maver Aleš, Haanpää Maria K, Pohjola Pia, Arikka Harri, Kievit Anneke J A, Calandrini Camilla, Iseli Christian, Guex Nicolas, Reymond Alexandre
Abstract excerpt
BACKGROUND: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative mode of action, wherein an increased level of AFF3 resulted in pathological effects. METHODS:...
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