PACS1

Below is a summary for the PACS1 gene observed in research publications. This is not meant to take the place of medical advice.

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What is Schuurs-Hoeijmakers syndrome?

Schuurs-Hoeijmakers syndrome happens when there are changes in the PACS1 gene. These changes can keep the gene from working as it should.

Schuurs-Hoeijmakers syndrome is also called PACS1 neurodevelopmental disorder.

Key Role

The PACS1 gene plays an important role in moving proteins to other cells where they are needed, and it is essential for development in utero.

Symptoms

Because the PACS1 gene is important for many parts of the body, some people may have:

  • Autistic features
  • Language delay
  • Intellectual disability
  • Heart issues
  • Feeding difficulty and constipation
  • Low muscle tone
  • Seizures
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Behavior issues
  • Laughing episodes
  • Undescended testicles in males
  • Attention deficit hyperactivity disorder, or ADHD

Do people who have Schuurs-Hoeijmakers syndrome look different?

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

  • Low-set ears
  • Long eyelashes
  • Wide-set eyes
  • Droopy eyelids
  • Wide mouth
  • Wide-set teeth
  • Smaller than average head size
  • Short height

How many people have Schuurs-Hoeijmakers syndrome?

As of 2022, about 46 people with Schuurs-Hoeijmakers syndrome, or PACS1 neurodevelopmental disorder, have been described in medical research.

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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 PACS1.

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Research Article Summaries

Below, we have summarized research articles about changes in the PACS1 gene. We hope you find this information helpful. The information available about PACS1 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 PACS1 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

  • Recurrent de novo mutation in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome Original research article by J.H. Schuurs-Hoeijmakers et al. (2012). Read the abstract here and the Simons Searchlight summary here.
  • Expanding the phenotype of a recurrent de novo variant in the PACS1 causing intellectual disability Original research article by D. Gadzicki et al. (2015). Read the abstract here and the Simons Searchlight summary here.
  • Clinical delineation of the PACS1-related syndrome—Report on 19 patients Original research article by J.H. Schuurs-Hoeijmakers et al. (2016). Read the abstract here and the Simons Searchlight summary here.
  • Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures Original research article by D. Stern et al. (2017). Read the abstract here and the Simons Searchlight summary here.
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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about PACS1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

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 PACS1 families:

Click here to share your family’s story!

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Previous Quarterly Reports