Article
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.
HGG advances - 9 Jul 2026
El Hayek Lauretta, Gogate Ashlesha, Chen Wei-Chen, Kaur Kiran, Zaki Maha S, De Wachter Matthias, Van Schil Kristof, Dublin-Ryan Leeran, Zamani Mina, Bartos Meghan N, Hiatt Susan M, Courdier Cécile, Michaud Vincent, Kenny Janna, Day Michael, Pang Lewis, Nasab Mahya Ebrahimi, Madani Manshadi Seyed Ali, Eslahi Atieh, Rasoul Masoomeh Ale, Sanchez-Mendoza Eduardo Humberto, DeLuca Charles, Marafi Dana, Stevens Servi J C, Ivanovski Ivan, Frey Tanja, Steindl Katharina, Rauch Anita, O'Connor Kaitlyn, Velinov Milen, Shen Xiaoming, Janssen Etienne J M, Sedighzadeh Sahar, Kordi-Tamandani Dor Mohammad, Khajeh Ali, Elshafie Reem M, Bastaki Laila, Misra Vinod K, Firoozfar Zahra, Goldenberg Paula C, Toosi Mehran Beiraghi, Mojarrad Majid, Kavanagh Karl, Koboldt Daniel C, Margot Henri, Hurst Anna C E, Weber Axel, Bergmann Carsten, Houlden Henry, Maroofian Reza, Weis Denisa, Ceulemans Berten, Chahrour Maria H
Abstract excerpt
Chromatin regulation is critical for neurodevelopment, and its disruption has emerged as a key pathogenic mechanism in neurodevelopmental disease, including autism spectrum disorder (ASD), a condition known for genetic and phenotypic heterogeneity. We previously identified an ASD gene, KDM5A, encoding a histone H3 lysine 4 demethylase, and reported de novo and inherited variants in nine individuals with severe...
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