Article
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
American journal of human genetics - 6 Nov 2025
Bou-Rouphael Johnny, Cospain Auriane, Courtin Thomas, Keren Boris, Marie Corentine, Lesieur-Sebellin Marion, Heron Delphine, de Sainte Agathe Jean-Madeleine, Heide Solveig, Lejeune Elodie, Quelin Chloe, Lecoquierre François, Nizon Mathilde, Isidor Bertrand, Besnard Thomas, Cogne Benjamin, Latypova Xenia, Levy Jonathan, Joset Pascal, Steindl Katharina, Palomares-Bralo Maria, Santos-Simarro Fernando, Thomas Mary Ann, Abubakar Amina, Lynch Sally Ann, Müller Amelie J, Haack Tobias B, Zenker Martin, Parker Michael, Clossick Emma, Spiller Michael, Crookes Renarta, Holder-Espinasse Muriel, Bayat Allan, Møller Rikke S, Mieszczanek Tomasz Stanislaw, de la Grange Pierre, Buratti Julien, Marijon Pierre, Ataf Sabir, Gavin Ryan, Parras Carlos, Hassan Bassem A, Mignot Cyril, El Khattabi Laïla
Abstract excerpt
Alternative splicing is highly prevalent in the brain where it orchestrates key processes such as neurogenesis and synaptogenesis, both essential for the nervous system's complexity and plasticity. Dysregulation of splicing has increasingly been linked to neurodevelopmental disorders. Here, we describe unrelated individuals carrying de novo, likely deleterious heterozygous variants in Splicing Factor 1 (SF1), all...
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