DYRK1A

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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GeneReviews

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.

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.

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Family Stories

Stories from DYRK1A families:

Click here to share your family’s story!