Alternate gene names: DYRK1, DYRK, MNBH
Associated syndromes or conditions: Intellectual disability type 7 (formerly called "mental retardation type 7")
Genomic location: 21q22.13

Diagnoses observed in people with changes in the DYRK1A gene:

  • Autism Spectrum Disorder – Yes
  • Intellectual Disability or Developmental Delay – Yes
  • Epilepsy or Seizures – Yes
  • Attention Deficit Hyperactivity Disorder – No
  • Schizophrenia – No
  • Bipolar Disorder – No

Other 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 here: http://sfari.org/news-and-opinion/news/2015/gene-defect-may-signal-distinctive-form-of-autism

Support Resources:


Research Opportunities:

In addition to the opportunity to particpate in research with Simons VIP, you may be interested in other opportunties.

  • The University of Washington’s Autism Center is performing a study to better understand the medical, learning, and behavioral features of individuals with changes in DYRK1A. Click here to learn more about this opportunity, called the TIGER Study.

Infographichttps://magic.piktochart.com/output/5679624-dyrk1a-infographic (share this link with others)


Research Article Summaries:
Below, we've summarized several research articles that include information about DYRK1A. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

  • Courcet et al. (2012)
    Changes  that disrupt DYRK1A have been previously seen in children with features of intellectual disability, absent or delayed language, microcephaly and epilepsy. This study presents two new patients who have smaller variants in DYRK1A, but have features very similar to the children first described. This suggests that changes in DYRK1A may cause a specific set of features (called a syndrome) which includes intellectual disability, as well as a smaller-than-average head size (microcephaly), delayed or slowed growth, and epilepsy. In addition, individuals with changes in this gene may have speech delay and subtle differences in the way the ear is shaped, often times with an underdeveloped ear lobe.
     
  • Iossifov et al. (2012)
    Past research has shown that changes in the DYRK1A gene can be linked to a variety of issues, like delay in development, intellectual disability, social & behavior issues, as well as speech impairment. This study identified 350-400 new “candidate” genes that may be related to the features of autism, and DYRK1A is one gene that was suggested based on whole-exome sequencing in 343 families from the Simons Simplex Collection (SSC) who had at least one child with a diagnosis of autism.

     
  • O'Roak et al. (2012)
    In this study, 2,494 samples from the Simon Simplex Collection (SSC) were used to look for 44 genes that have been associated with autism.  The SSC study included children with autism and intellectual disability. This study identified 27 de novo (not inherited from a parent) gene changes in 16 genes, including 3 patients with variants in DYRK1A who were observed to have significantly smaller head sizes (microcephaly). This indicates that changes in the DYRK1A gene may be related to regulating brain growth, as well as autism and/or delays in development.

     
  • Yang et al. (2013)
    In this study, whole exome sequencing was used to search for genetic causes to unexplained developmental delay, intellectual disability, and neurological differences in 250 children. Of these 250 children, about 25% were identified to have a genetic change that explained their diagnosis; including one child with intellectual disability and autis who had a change in the DYRK1A gene that was not inherited from either parent (de novo).

     
  • Iglesias et al. (2014)
    In this study, 115 individuals (mostly children, but some adults) were evaluated at Columbia University Medical Center and had whole-exome sequencing to identify the cause of many different types of health problems (ie: birth defects, developmental delay, seizures, hearing loss, behavioral differences, heart problems, etc). Diagnoses were made in 37 cases (32.2%), including one participant who had a change in the DYRK1A gene not inherited from either parent (de novo). Changes in this gene have been associated with intellectual disability in the past, and this patient also had features of a smaller-than-average head size (microcephaly), small size during pregnancy (intrauterine growth retardation), subtle differences in facial features like long eyelashes and anteriorly rotated ears, as well as developmental delay.

 You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: DYRK1A

 

Back to: Genetic Changes We're Studying