PACS1

Learn more about PACS1 and connect with other Simons Searchlight families with the resources below.

To view the latest quarterly registry report, updated March 2021, with updated data on Simons Searchlight PACS1 participants, click HEREIf you want to be included in future reports, join Simons Searchlight today!

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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.

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Family Stories

Stories from PACS1 families:

Click here to share your family’s story!