CASK-Related Disorders

What causes _CASK_ -related disorders?

CASK -related disorders are caused by mutations in the CASK gene. This gene provides instructions for making the CASK protein, which is typically found in the nerve cells in the brain (neurons). The CASK protein is involved in controlling the activity of other genes that are involved in brain development and regulating the movement of certain necessary for signaling between neurons. Researchers suspected the protein may also be involved in development of the nerves that control eye movement.

Mutations in the CASK gene are thought to affect the role of the CASK protein in brain development and function, resulting in the associated signs and symptoms. Research indicates that the more severe symptoms associated with these disorders are caused by mutations that completely eliminate the function of the CASK protein, while more mild symptoms are caused by mutations that impair or reduce the function of the protein.

Last updated on 05-01-20

How are _CASK_ -related disorders inherited?

CASK -related disorders are inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition.

Because males have only one X chromosome (and one Y chromosome) and females have two X chromosomes, X-linked dominant conditions affect males and females differently. Both males and females can have an X-linked dominant condition. However, because males don't have a second, working copy of the gene (as females do), they usually have more severe disease than females.

If a father has the mutated X-linked gene:

  • All of his daughters will inherit the mutated gene (they will all receive his X chromosome)
  • None of his sons will inherit the mutated gene (they only inherit his Y chromosome)

If a mother has the mutated X-linked gene, each of her children (both male and female) has a 50% chance to inherit the mutated gene.

Rather than being inherited from a parent, the condition may also be caused by a new mutation that occurs for the first time in an affected person (a de novo mutation).

Last updated on 05-01-20


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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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