Article
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
European journal of human genetics : EJHG - 1 Feb 2023
Leonardi Emanuela, Aspromonte Maria Cristina, Drongitis Denise, Bettella Elisa, Verrillo Lucia, Polli Roberta, McEntagart Meriel, Licchetta Laura, Dilena Robertino, D'Arrigo Stefano, Ciaccio Claudia, Esposito Silvia, Leuzzi Vincenzo, Torella Annalaura, Baldo Demetrio, Lonardo Fortunato, Bonato Giulia, Pellegrin Serena, Stanzial Franco, Posmyk Renata, Kaczorowska Ewa, Carecchio Miryam, Gos Monika, Rzońca-Niewczas Sylwia, Miano Maria Giuseppina, Murgia Alessandra
Abstract excerpt
Lysine-specific demethylase 5C (KDM5C) has been identified as an important chromatin remodeling gene, contributing to X-linked neurodevelopmental disorders (NDDs). The KDM5C gene, located in the Xp22 chromosomal region, encodes the H3K4me3-me2 eraser involved in neuronal plasticity and dendritic growth. Here we report 30 individuals carrying 13 novel and one previously identified KDM5C variants. Our cohort...
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