Article
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Journal of medical genetics - 1 Nov 2022
Angelozzi Marco, Karvande Anirudha, Molin Arnaud N, Ritter Alyssa L, Leonard Jacqueline M M, Savatt Juliann M, Douglass Kristen, Myers Scott M, Grippa Mina, Tolchin Dara, Zackai Elaine, Donoghue Sarah, Hurst Anna C E, Descartes Maria, Smith Kirstin, Velasco Danita, Schmanski Andrew, Crunk Amy, Tokita Mari J, de Lange Iris M, van Gassen Koen, Robinson Hannah, Guegan Katie, Suri Mohnish, Patel Chirag, Bournez Marie, Faivre Laurence, Tran-Mau-Them Frédéric, Baker Janice, Fabie Noelle, Weaver K, Shillington Amelle, Hopkin Robert J, Barge-Schaapveld Daniela Q C M, Ruivenkamp Claudia Al, Bökenkamp Regina, Vergano Samantha, Seco Moro Maria Noelia, Díaz de Bustamante Aranzazu, Misra Vinod K, Kennelly Kelly, Rogers Caleb, Friedman Jennifer, Wigby Kristen M, Lenberg Jerica, Graziano Claudio, Ahrens-Nicklas Rebecca C, Lefebvre Veronique
Abstract excerpt
BACKGROUND: A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this syndrome. METHODS: We newly identified 17 patients with SOX4 variants, predicted variant pathogenicity using in silico tests and in vitro functional assays and...
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