Article
AUTS2-related syndrome: Insights from a large European cohort.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2025
Loberti Lorenzo, Adamo Loredaria, Antolini Enrica, Casamassima Giulia, Destrèe Anne, Brunetti-Pierri Nicola, Genevieve David, Christophe Philippe, Coubes Christine, Van Esch Hilde, Herget Theresia, Kortüm Fanny, Lisfeld Jasmin, Möllring Anna Charlotte, Zenker Martin, Levy Jonathan, Perrin Laurence, Tabet Anne-Claude, Maruani Anna, Sorlin Arthur, Stieber Daniel, Herissant Lucas, Dahan Karin, Sinibaldi Lorenzo, Capolino Rossella, Dentici Maria Lisa, Dallapiccola Bruno, Novelli Antonio, Garavelli Livia, Caraffi Stefano Giuseppe, Piatelli Gianluca, Valenzuela Irene, Digilio Maria Cristina, Caumes Roseline, Knopp Cordula, Chwiałkowska Karolina, Jezela-Stanek Aleksandra, Kwasniewski Miroslaw, Korotko Urszula, Gorzałczyńska Ewelina, Canitano Roberto, Grosso Salvatore, Rahikkala Elisa, Mattern Larissa, Elbracht Miriam, Zuffardi Orsetta, Caputo Valentina, Toschi Benedetta, Beunders Gea, Leeuwen Lisette, Elting Mariet W, van der Laan Liselot, Broekema Marjoleine F, Groffen Alexander J, van de Kamp Jiddeke M, van Haelst Mieke M, Alders Marielle, Mauro Salvatore Pietro, De Razza Francesca, Varvara Dora, Kick Johanna, Gaspar Harald, Braun Dominique, Lausberg Eva, Maier Andrea, Ruault Valentin, Genesio Rita, Tartaglia Marco, Tita Rossella, Bruttini Mirella, Longo Ilaria, Baldassarri Margherita, Mencarelli Maria Antonietta, Renieri Alessandra, Pinto Anna Maria
Abstract excerpt
PURPOSE: AUTS2-related syndrome is characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters, AUTS2 encodes 2 distinct long and short isoforms encoding a putative transcriptional activator. METHODS: Through a European collaborative study, we collected clinical and genotype data on the largest AUTS2-related syndrome cohort of 58 patients harboring...
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