CASK Gene Mutation | Latest Research & Resources

Relevant publications

Our must reads about CASK gene disorders

1. This GeneReview on CASK will help many parents and pediatric neurologists to find detailed information on this rare disorder and the appropriate treatments for the affected children.

https://www.ncbi.nlm.nih.gov/books/NBK169825/

2. An informative review of our understanding of the mechanisms of CASK and the role of mouse models.

The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model (March 2022)

3. Scientists identify how a nonfunctioning CASK gene creates chaos in the brain _{(July 2020)}

4.. A summary and categorisation of the various clinical phenotypes in boys and males with different CASK pathogenic variants.

https://pubmed.ncbi.nlm.nih.gov/25886057/

5. Ongoing research on CASK variants by Hans-Jürgen Kreienkamp and his team

Functional analysis of CASK transcript variants expressed in human brain – PubMed (nih.gov)

6. Researchers use genetic manipulation techniques to highlight how the function of a protein can lead to neurodevelopmental delays _{(Feb 2019)}

Looking behind a rare brain disease for clues to treat more common mental disorders

The first ever publication on CASK as a disease causing mutation

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

Latest publications

Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder(Jan 2023)

CASK loss of function differentially regulates neuronal maturation and synaptic function in human induced cortical excitatory neurons (Sept 2022)

Expanding the natural history of CASK-related disorders to the prenatal period (Sept 2022)

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain (Sept 2022)

Pathogenic variants in CASK: Expanding the genotype-phenotype correlations (June 2022)

The Role of CASK in Central Nervous System Function and Disorder (May 2022)

CASK may affect brain energy homeostasis and synaptic connections. Alterations in brain volume associated with CASK-linked disorders is the result of degenerative cell death rather than developmental failure.

Problems in synapse connection sites found in rare developmental disorders _{(Sept 2020)}

Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways _{(July 2020)}

Presynaptic dysfunction in CASK-related neurodevelopmental disorders _{(December 2019)}