Article
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
Clinical genetics - 1 Dec 2020
Gold Nina B, Li Dong, Chassevent Anna, Kaiser Frank J, Parenti Ilaria, Strom Tim M, Ramos Feliciano J, Puisac Beatriz, Pié Juan, McWalter Kirsty, Guillen Sacoto Maria J, Cui Hong, Saadeh-Haddad Reem, Smith-Hicks Constance, Rodan Lance, Blair Edward, Bhoj Elizabeth
Abstract excerpt
The gamma-1 isoform of casein kinase 1, the protein encoded by CSNK1G1, 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 in CSNK1G presenting with severe...
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