This website provides information on patients with mutations in the CSNK1G1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the CSNK1G1 gene is a multisystem disorder characterized by intellectual disability and, in some cases, autism spectrum disorder.
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 CSNK1G1 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.
Not all individuals with a mutation in the CSNK1G1 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CSNK1G1 gene.
Nina B. Gold, MD, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA, email@example.com
Elizabeth Bhoj, MD, PhD, Children’s Hospital of Philadelphia, Philadelphia, PA, USA, firstname.lastname@example.org