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Gold, N.B.* ; Li, D.* ; Chassevent, A.* ; Kaiser, F.J.* ; Parenti, I.* ; Strom, T.M. ; Ramos, F.J.* ; Puisac, B.* ; Pié, J.* ; McWalter, K.* ; Guillen Sacoto, M.J.* ; Cui, H.* ; Saadeh-Haddad, R.* ; Smith-Hicks, C.* ; Rodan, L.* ; Blair, E.* ; Bhoj, E.*

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

Clin. Genet. 98, 571-576 (2020)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
The gamma-1 isoform of casein kinase 1, the protein encoded byCSNK1G1, is involved in the growth and morphogenesis of cells. This protein is expressed ubiquitously among many tissue types, including the brain, where it regulates the phosphorylation of N-methyl-D-aspartate receptors and plays a role in synaptic transmission. One prior individual with a de novo variant inCSNK1Gpresenting with severe developmental delay and early-onset epilepsy has been reported. Here we report an updated clinical history of this previously published case, as well as four additional individuals with de novo variants inCSNK1G1identified via microarray-based comparative genomic hybridization, exome, or genome sequencing. All individuals (n = 5) had developmental delay. At least three individuals had diagnoses of autism spectrum disorder. All participants were noted to have dysmorphic facial features, although the reported findings varied widely and therefore may not clearly be recognizable. None of the participants had additional major malformations. Taken together, our data suggest thatCSNK1G1may be a cause of syndromic developmental delay and possibly autism spectrum disorder.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Autism ; Developmental Delay ; Genetic Diagnosis ; Genetic Syndrome; Casein Kinase-1; Gilgamesh; Mutations; Genes
ISSN (print) / ISBN 0009-9163
e-ISSN 1399-0004
Zeitschrift Clinical Genetics
Quellenangaben Band: 98, Heft: 6, Seiten: 571-576 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
Förderungen National Institute for Health Research (NIHR) Oxford Biomedical Research Centre