Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Defects in histone methyltransferases (HMTs) are major contributing factors in neurodevelopmental disorders (NDDs). Heterozygous variants of SETD1A involved in histone H3 lysine 4 (H3K4) methylation were previously identified in individuals with schizophrenia. Here, we define the clinical features o...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Molecular psychiatry 2021-06, Vol.26 (6), p.2013-2024
Hauptverfasser:	Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R. F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C. O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E. H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L. I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M. C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., Kleefstra, Tjitske
Format:	Artikel
Sprache:	eng
Schlagworte:	13/89 38/23 38/77 38/91 631/208 631/337 64/24 692/699/476/1799 Animals Behavioral Sciences Biological Psychology Cell cycle Cell differentiation Child Child development deviations Cognitive ability Copy number variations Development and progression Developmental disabilities DNA damage DNA repair Drosophila Drosophila melanogaster Genetic aspects Haploinsufficiency Haploinsufficiency - genetics Health aspects Hereditary diseases Histone H3 Histone-Lysine N-Methyltransferase - genetics Histones Humans Identification and classification Insects Intellectual disabilities Intellectual Disability - genetics Lymphoblastoid cell lines Lysine Medicine Medicine & Public Health Mental disorders Methyltransferases Microencephaly Neural stem cells Neurodevelopmental disorders Neurodevelopmental Disorders - genetics Neurosciences Patients Pediatrics Pharmacotherapy Phenotypes Physiological aspects Progenitor cells Psychiatry Risk factors RNA-mediated interference Schizophrenia
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!