Article
Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.
The Journal of clinical investigation - 3 Aug 2026
Wang Qin, Sobering Andrew K, Tirrito Christian, Haghshenas Sadegheh, Hjortshøj Tina Duelund, Platzer Konrad, Redler Silke, March Michael E, Matsuoka Leticia S, Xi Hang, Zoodsma Josiah, Chen Yuanhua, Mori Mari, Leung Marco L, Couque Nathalie, Verloes Alain, Pouzet Antoine, Giesbertz Noor Aa, Simon Marleen Eh, Yearwood Ashley K, Assing Dominique L, Hsieh Tzung-Chien, Li Jing-Mei, Levy Michael A, Kerkhof Jennifer, McConkey Haley, Rzasa Jessica, Lauzon-Young Carolyn, Sulaiman Raashda A, Abdulwahab Firdous, Shamseldin Hanan E, Almontashiri Naif Am, Afqi Manal, Vedanarayanan Vettaikorumakankav, Guillen Sacoto Maria J, Wentzensen Ingrid M, Damseh Nadirah S, Birnbaum Rivka, van Ommeren Babeth, Hopman Saskia Mj, Zaki Maha S, Elmakkawy Gehad, Afzal Erum, Kim JiHye, Efthymiou Stephanie, Houlden Henry, Nusrat Ambreen, Toft Mathias, Abdullah Uzma, Iqbal Zafar, Terek Shannon, Alkuraya Fowzan S, Bhoj Elizabeth J, Maroofian Reza, Sadikovic Bekim, Hakonarson Hakon, Song Yuanquan, Li Dong
Abstract excerpt
Chromatin remodeling is a dynamic epigenetic process that alters chromatin structure to gauge gene accessibility, enabling precise spatiotemporal gene expression, with disruptions often underlying neurodevelopmental disorders (NDDs), although the mechanistic underpinning remains incompletely understood. Despite essential roles in chromatin remodeling processes such as DNA methylation and histone acetylation and...
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