DYRK1A

The information for this summary of DYRK1A-related syndrome comes from research publications. This is not meant to take the place of medical advice

Click here for our full DYRK1A Gene Guide

The online Gene Guide includes more information about DYRK1A such as the chance of having another child with this condition, behavior and development concerns linked to DYRK1A-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

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What is DYRK1A-Related Syndrome?

DYRK1A-related syndrome happens when there are changes to the DYRK1A gene. These changes can keep the gene from working as it should.

Key Role

The DYRK1A gene plays a key role in brain development. It is especially important for creating new brain cells and for updating connections among brain cells.

Symptoms

Because the DYRK1A gene is important in brain development, many people who have DYRK1A-related syndrome have:

  • Intellectual disability
  • Speech delay
  • Motor difficulties
  • Small head, also called microcephaly
  • Feeding problems
  • Vision problems
  • Behavioral issues
  • Seizures
  • Shorter than average height
  • Features of autism

How many people have DYRK1A-related syndrome?

As of 2024, 238 people with DYRK1A-related syndrome have been identified in a medical clinic. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Learn more about the DYRK1A gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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GeneReview

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care. Check out the GeneReviews for DYRK1A.

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Research Article Summaries

Below, we have summarized research articles about changes in the DYRK1A gene. We hope you find this information helpful. The information available about DYRK1A is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow. Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for DYRK1A articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Associated Features:

  • The majority of children with DYRK1A gene changes have a smaller-than-average head size, and some children have had to have teeth removed to accommodate their small jaw size.
  • In one study of 15 children with DYRK1A changes, all were found to have mild to severe intellectual disability.
  • In another study of 8 children DYRK1A changes, 7 were diagnosed with autism.

Read more, in the Simons Foundation‘s Spectrum newsletter, here.

  • The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy Original research article by J.B. Courcet et al. (2012). Read the abstract here and the Simons Searchlight summary here.
  • De novo gene disruptions in children on the autistic spectrum Original research by I. Iossifov et al. (2012). Read the abstract here and the Simons Searchlight summary here.
  • Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders Original research article by B.J. O’Roak et al. (2012). Read the abstract here and the Simons Searchlight summary here.
  • Clinical whole-exome sequencing for the diagnosis of Mendelian disorders Original research article by Y. Yang et al. (2013). Read the article here and the Simons Searchlight summary here.
  • The usefulness of whole-exome sequencing in routine clinical practice Original research article by A. Iglesias et al. (2014) Read the article here and the Simons Searchlight summary here.
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Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about DYRK1A genetic changes by taking part in our research. You can learn more about the project and sign up here.

TIGER Study The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in DYRK1A. Click here to learn more about this opportunity.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

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Family Stories

Stories from DYRK1A families:

Click here to share your family’s story!

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Previous Quarterly Reports