DYRK1A

Below is a summary for the DYRK1A gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

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

Do people who have DYRK1A-related syndrome look different?

People who have DYRK1A-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Deep-set eyes that look hooded
  • Narrow forehead
  • Larger than average brow with high hairline
  • Tube-shaped nose
  • Larger than average nasal bridge
  • Lower jaw set back from upper jaw
  • Small chin
BEHAVIOR

40% have autism and 70% have autism-like behaviors.

FEEDING and DIGESTION ISSUES

More than 90% of people who have the condition have feeding issues.

EYES and EYESIGHT

80% have vision problems.

+

Support Resources

+

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.

+

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.

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.

+

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.

+

Family Stories

Stories from DYRK1A families:

Click here to share your family’s story!