Article
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2026
Shi Yuwei, Silva Ananilia, Debuy Christophe, Ghosh Sourav, McConkey Haley, Schot Rachel, Deng Ruizhi, Nikoncuk Anita, van Slegtenhorst Marjon, Hoefsloot Lies H, van Ham Tjakko J, Simpson Brittany N, Miller Dana, Pillai Nishitha R, Holder-Espinasse Muriel, Almoguera Berta, Blanco-Kelly Fiona, Clowes Virginia, Yoon Grace, Monteleone Berrin, Vasquez Jaime, Pérez de la Fuente Rubén, Bellido-Cuéllar Sara, Barrios-Machain Ursino, Moreno-Sáez Yolanda, Steindl Katharina, Begemann Anais, Rauch Anita, Busa Tiffany, Gorokhova Svetlana, Lakhani Shenela, Grinspan Zachary, Garde Aurore, Mau Them Frederic Tran, Bruel Ange-Line, Delanne Julian, Safraou Hana, Colin Estelle, Parikh Aditi Shah, Slavotinek Anne, Devine Patrick, Shillington Amelle, Sorlin Arthur, Menzies Didier, Mehta Lakshmi, Close Charlotte, Heid Caleb, Ahmed Syed Ajaz, Gomes Adriana, Bird Lynne M, Aref-Eshghi Erfan, Cardona-Londoño Kelly J, Arold Stefan T, Li Jing-Mei, Hsieh Tzung-Chien, Kleefstra Tjitske, Lanko Kristina, Sadikovic Bekim, Barakat Tahsin Stefan
Abstract excerpt
PURPOSE: SET is a member of the inhibitor of histone acetyltransferases complex involved in transcriptional silencing and gene regulation. Pathogenic variants in SET are postulated to cause neurodevelopmental disorder (NDD) phenotypes, but as only a few individuals are described, detailed clinical information is scarce. Hence, currently, counseling on phenotypes and prognosis of this condition remains...
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