CASK related disorders

Last revised by Daniel J Bell on 3 Apr 2020

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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