POGZ

Learn more about the POGZ  gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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Research Article Summaries

Below, we have summarized research articles about changes in the POGZ gene. We hope you find this information helpful.

The information available about POGZ 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.

 

Disruption of POGZ is associated with intellectual disability and autism spectrum disorder 

Original research article by H.A.F. Stessman et al. (2016).

Read the article here and the Simons Searchlight summary here.

 

POGZ truncating alleles cause syndromic intellectual disability

Original research article by J. White et al. (2015).

Read the abstract here and the Simons Searchlight summary here.

 

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

Original research report by Y. Ye et al. (2015).

Read the report here and the Simons Searchlight summary here.

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Research Opportunities

Simons Searchlight

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

 

POGZ Research Opportunity at Boston Children’s Hospital

Download this letter for more information about a research study being done by Dr. Vijay Sankaran at Boston Children’s Hospital. If you are interested in learning more or to see if you qualify for participation in this study, please contact Dr. Sankaran at the information below. For more information, contact Dr. Sankaran by email at sankaran@broadinstitute.org.

 

 

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Family Stories

Stories from POGZ families:

Click here to share your family’s story!