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Titel:

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

Dokumenttyp:
Article; Journal Article
Autor(en):
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; Agr...     »
Abstract:
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 of the Mendelian syndrome associated with haploinsufficiency of SETD1A by investigating 15 predominantly pediatric individuals who all have de novo SETD1A variants. These individuals present with a cor...     »
Zeitschriftentitel:
Mol Psychiatry
Jahr:
2021
Band / Volume:
26
Heft / Issue:
6
Seitenangaben Beitrag:
2013-2024
Volltext / DOI:
doi:10.1038/s41380-020-0725-5
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/32346159
Print-ISSN:
1359-4184
TUM Einrichtung:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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