Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder
| Autor: | Tim M. Strom, Nina B. Gold, Anna Chassevent, Edward Blair, Lance H. Rodan, Juan Pié, Constance Smith-Hicks, Ilaria Parenti, Feliciano J. Ramos, Maria J. Guillen Sacoto, Kirsty McWalter, Reem Saadeh-Haddad, Elizabeth J. Bhoj, Dong Li, Beatriz Puisac, Frank J. Kaiser, Hong Cui |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Adult Male Heterozygote Microarray Adolescent Autism Spectrum Disorder Developmental Disabilities Morphogenesis Medizin 030105 genetics & heredity Biology DNA sequencing 03 medical and health sciences Epilepsy Young Adult Genetics medicine Humans Genetic Predisposition to Disease Casein Kinase II Child Exome Genetics (clinical) Comparative Genomic Hybridization Whole Genome Sequencing medicine.disease 030104 developmental biology Autism spectrum disorder Child Preschool Autism Female Comparative genomic hybridization |
| Zdroj: | Clinical geneticsREFERENCES. 98(6) |
| ISSN: | 1399-0004 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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