DYRK1A

Molecular characteristics

What causes DYRK1A-related syndrome?

DYRK1A-related intellectual disability syndrome is caused by changes in the DYRK1A gene.

For general information about genes and chromosomes we refer to Genetics Home Reference.

There are two mechanisms responsible for these changes:

  • First, the gene can be deleted. This means that a part of the gene, the whole gene or even a larger segment of the whole chromosome is absent.
  •  The second mechanism is a mutation. Each gene consists of a long stretch of DNA building blocks (nucleotides). A change in one or a couple of these nucleotides is called a mutation.

The DYRK1A gene provides the instructions for the production of the DYRK1A protein. Due to the changes described above the DYRK1A protein cannot be formed anymore. The protein normally helps control the activity of several other proteins. Those proteins are, for example, very important to help cells growth and division. A defect in this cascade has severe consequences and results in DYRK1A-related intellectual disability syndrome.