Article
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
European journal of human genetics : EJHG - 1 Jul 2025
Hildonen Mathis, Ciolfi Andrea, Ferilli Marco, Cappelletti Camilla, Al Alam Chadi, Amor David J, Barakat Tahsin Stefan, Benoit Valérie, Birk Ohad Shmuel, Callewaert Bert, Cazurro-Gutiérrez Ana, De Wachter Matthias, Doco-Fenzy Martine, Gómez-Puertas Paulino, Hammer Trine Bjørg, Jamra Rami Abou, Kaiyrzhanov Rauan, Kameyama Shinichi, Keren Boris, Kresge Christina, Krey Ilona, Lederer Damien, Marcos-Alcalde Iñigo, Maroofian Reza, Matsumoto Naomichi, Mizuguchi Takeshi, Moey Lip-Hen, Morgan Angela, Munell Francina, Platzer Konrad, Pletcher Beth A, Ros-Pardo David, Rumping Lynne, Szakszon Katalin, Van Schil Kristof, Verdura Edgard, Vogt Julie, Wassmer Evangeline, Zamani Mina, Tümer Zeynep, Tartaglia Marco
Abstract excerpt
Biallelic inactivating variants in ZNF142 underlie a clinically variable neurodevelopmental disorder. ZNF142 is a zinc-finger transcription factor with potential roles on chromatin organization, implying a possible association of ZNF142 loss of function with perturbed genome-wide DNA methylation (DNAm) pattern. We performed EPIC array-based methylation profiling of peripheral blood-derived DNA samples from 27...
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