DYRK1A

Autism spectrum disorder

At least 11 DYRK1A gene mutations have been identified in people with autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors. Most people with ASD associated with DYRK1A gene mutations also have other signs and symptoms. In some cases, they have a particular combination of additional features, including intellectual disability, speech problems, anxiety, and an unusually small head (microcephaly). Other signs and symptoms that may occur in these individuals include recurrent seizures (epilepsy), characteristic facial features, weak muscle tone (hypotonia), foot abnormalities, and walking problems (gait disturbance). This pattern of signs and symptoms is sometimes called DYRK1A-related intellectual disability syndrome.

DYRK1A gene mutations result in loss of the DYRK1A enzyme or an enzyme that does not function properly. Impaired or absent DYRK1A enzyme function likely leads to abnormal regulation of gene expression and disrupts proper neural development. However, the specific relationship between DYRK1A gene mutations and the signs and symptoms of ASD, as well as the other features that may occur in people with these mutations, is unclear.