top of page
Cask Gene Disorder

WHAT IS A CASK GENE MUTATION

OVERVIEW OF THE CASK GENE

The CASK gene is located on the X chromosome and provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control the activity (expression) of other genes that are involved in brain development. It also helps regulate the movement of chemicals called neurotransmitters and of charged atoms (ions), which are necessary for signaling between neurons.

CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do females; the more severe MICPCH mostly affects females, likely because only a small number of males survive to birth.

[source: medlineplus.gov]

COMMON SYMPTOMS OF A CASK GENE MUTATION

Common symptoms include:

  • microcephaly with or without pontine and cerebellar hypoplasia (MICPCH)*

  • seizures (myoclonic, subcortical myoclonus*, and infantile spasms) 

  • hypotonia

  • optic nerve hypoplasia

  • nystagmus
  • ataxia

  • sensorineural hearing loss

  • joyful personality

  • speech/apraxia (mild - severe)

  • sensory processing disorder

  • considered universally beautiful

  • short in stature

  • wide nose bridge

  • rainbow arch eyebrows

  • feeding difficulties

  • constipation

  • Autism Spectrum Disorder

  • cerebral palsy

  • difficulty sleeping

*macrocephaly and unremarkable head circumference measurements have also been reported

*subcortical myoclonic seizures mimic myoclonic seizures, but do not originate in the brain (or show up on a typical EEG)

[source: cask.rare-x.org], [parent reported]

COMMON
MISDIAGNOSES

The CASK disorder has been commonly confused with, or misdiagnosed as:

  • Angelman Syndrome

  • Dandy-Walker Syndrome 

  • Rett Syndrome

  • Cerebral Palsy

  • Autism

 

[source: parent reported]

GENETICS

THE BOOK ANALOGY

If any of these elements of the "book" are missing, or in the wrong place, the book starts to not make sense. Particularly proceeding the mutation.

The further that the mistake/mutation occurs in the sentence, severity of symptoms typically decrease. There are exceptions, for example: skewing, mosaicism, or heterozygous versus homozygous presentations. 

bottom of page