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Krenn, M.* ; Kepa, S.* ; Kasprian, G.* ; Riedhammer, K.M.* ; Wagner, M. ; Goedl-Fleischhacker, U.* ; Milenkovic, I.*

A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability.

Eur. J. Med. Genet. 65:104423 (2022)
Verlagsversion DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
Variants in CSDE1, a gene encoding a constrained RNA-binding protein, have recently been associated with a spectrum of neurodevelopmental conditions encompassing autism, seizures and ocular abnormalities. According to previously reported individuals, pathogenic variants in CSDE1 are typically associated with developmental delay and intellectual disability. Here, we report one individual with normal neurodevelopment and adult-onset neuropsychiatric features (i.e., acute psychosis) due to the novel de novo truncating variant c.2272C  >  T, p.(Gln758*) in CSDE1 (NM_001242891.1). Neuropsychological assessment confirmed deficits regarding verbal fluency, semantic memory, executive function and processing speed. Overall, our findings expand the phenotypic spectrum of CSDE1-related disorder towards the mild end.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Csde1 ; Neurodevelopment ; Psychosis ; Whole-exome Sequencing
ISSN (print) / ISBN 1769-7212
e-ISSN 1729-7212
Zeitschrift European Journal of Medical Genetics
Quellenangaben Band: 65, Heft: 3, Seiten: , Artikelnummer: 104423 Supplement: ,
Verlag Elsevier
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)