PRiSM is a functional screen to assess the pathogenicity of candidate variants identified in individuals with a neurodevelopmental disorder.

MORE ABOUT PRISM

Testing Variants

PRiSM consists of an in silico screening followed by three standardized assays. Two in vitro assays, looking at the effect of the variant on protein stability and neuronal morphology, and one in vivo assay, looking at the effect of the variant on neuronal migration.

MORE ABOUT ASSAYS

NEWS & EVENTS

Funding

At the moment we do not have any funding for screening mutations.

Presentations

Presentations on projects where the PRiSM screen is used at conferences, patient organization days, or other occasions will be announced here.

RECENT PUBLICATIONS

2018

Proietti Onori, et al: The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. Human Mutation, 2018. (Type: Journal Article | BibTeX)

2017

Reijnders et al: Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. Nature Communications, 8 (1052), 2017. (Type: Journal Article | BibTeX)
Küry et al: De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet, (101), pp. 768–788, 2017. (Type: Journal Article | BibTeX)