Citation, DOI, disclosures and article data
Citation:
Veiga M, Bell D, Moore C, CASK related disorders. Reference article, Radiopaedia.org (Accessed on 28 Apr 2024) https://doi.org/10.53347/rID-75043
CASK related disorders are caused by mutations of the CASK gene and have a wide phenotypic spectrum, with a typically more disabling phenotype in females.
In males there may be mental retardation and congenital nystagmus. In females there may be only mental retardation, however some possess additional features such as hearing loss. Either sex may suffer from seizures.
The CASK protein is a calcium/calmodulin-dependent serine protein kinase. The disorders due to mutations in the gene for this kinase are often inherited in an X-linked manner, but de novo mutations are also seen.
There is a broad spectrum of appearances, which at the severe end includes microcephaly with pontine and cerebellar hypoplasia (MICPCH) which features microcephaly, disproportionate brainstem and cerebellar hypoplasia and may show reduced volume frontal gyri. Female patients seem to have a normal-sized corpus callosum, which gives an impression of callosal thickening in microcephalic patients. This represents an imaging clue to the CASK gene mutation.
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2, Sarika Srivastava, Ryan McMillan, Jeffery Willis, Helen Clark, Vrushali Chavan, Chen Liang, Haiyan Zhang, Matthew Hulver, Konark Mukherjee. X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner. (2016) Acta Neuropathologica Communications. 4 (1): 1. doi:10.1186/s40478-016-0295-6 - Pubmed
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