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

Nina B. Gold, Dong Li, Anna Chassevent, Frank J. Kaiser, Ilaria Parenti, Tim M. Strom, Feliciano J. Ramos, Beatriz Puisac, Juan Pié, Kirsty McWalter, Maria J. Guillen Sacoto, Hong Cui, Reem Saadeh-Haddad, Constance Smith-Hicks, Lance Rodan, Edward Blair, Elizabeth Bhoj

Research output: Contribution to journalArticlepeer-review

Abstract

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 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 in CSNK1G1 identified 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 that CSNK1G1 may be a cause of syndromic developmental delay and possibly autism spectrum disorder.

Original languageEnglish (US)
Pages (from-to)571-576
Number of pages6
JournalClinical Genetics
Volume98
Issue number6
DOIs
StatePublished - Dec 2020
Externally publishedYes

Keywords

  • CSNK1G1
  • autism
  • developmental delay
  • genetic diagnosis
  • genetic syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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