Article
Further delineation of the SCAF4-associated neurodevelopmental disorder.
European journal of human genetics : EJHG - 1 May 2025
Schmid Cosima M, Gregor Anne, Ruiz Anna, Manso Bazús Carmen, Herman Isabella, Ammouri Farah, Kotzaeridou Urania, McNiven Vanda, Dupuis Lucie, Steindl Katharina, Begemann Anaïs, Rauch Anita, Suter Aude-Annick, Isidor Bertrand, Mercier Sandra, Nizon Mathilde, Cogné Benjamin, Deb Wallid, Besnard Thomas, Haack Tobias B, Falb Ruth J, Müller Amelie J, Linden Tobias, Haldeman-Englert Chad R, Ockeloen Charlotte W, Mattioli Francesca, Reymond Alexandre, Ibrahim Nazia, Naz Shagufta, Lacaze Elodie, Bassetti Jennifer A, Hoefele Julia, Brunet Theresa, Riedhammer Korbinian M, Elloumi Houda Z, Person Richard, Zou Fanggeng, Kahle Juliette J, Cremer Kirsten, Schmidt Axel, Delrue Marie-Ange, Almeida Pedro M, Ramos Fabiana, Srivastava Siddharth, Quinlan Aisling, Robertson Stephen, Manka Eva, Kuechler Alma, Spranger Stephanie, Nowaczyk Malgorzata J M, Elshafie Reem M, Alsharhan Hind, Hillman Paul R, Dunnington Leslie A, Braakman Hilde M H, McKee Shane, Moresco Angelica, Ignat Andrea-Diana, Newbury-Ecob Ruth, Banneau Guillaume, Patat Olivier, Kuerbitz Jeffrey, Rzucidlo Susan, Sell Susan S, Gordon Patricia, Schuhmann Sarah, Reis André, Halleb Yosra, Stoeva Radka, Keren Boris, Al Masseri Zainab, Tümer Zeynep, Hammer-Hansen Sophia, Krüger Sølyst Sofus, Steigerwald Connolly G, Abreu Nicolas J, Faust Helene, Müller-Nedebock Amica, Tran Mau-Them Frédéric, Sticht Heinrich, Zweier Christiane
Abstract excerpt
While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we...
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