SYNCRIP

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

Key Role

SYNCRIP plays an important role in brain development and is associated with autism. The gene is also likely associated with language and learning.

How many people have a de novo gene change in SYNCRIP?

As of 2020, researchers had described less than ten people in the world with autism or neurodevelopmental disorders and changes in the SYNCRIP gene. The first case of this condition was found in 2012. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Do people who have de novo changes in the SYNCRIP gene look different?

We do not yet know if people who have de novo changes in the SYNCRIP gene look consistently different from others.

Learn more about the SYNCRIP 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.

There are currently no GeneReviews for SYNCRIP.

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Research Article Summaries

We currently do not have any article summaries for SYNCRIP, but we add resources to our website as they become available.

The information available about SYNCRIP is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

 

  • Rauch A. et al. Lancet, 380, 1674-1682, (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study, pubmed.ncbi.nlm.nih.gov/23020937/.
  • Lelieveld SH. et al. Nature Neuroscience, 19, 1194-1196, (2016). Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability, https://pubmed.ncbi.nlm.nih.gov/27479843/.
  • Engwerda A. et al. European Journal of Human Genetics, 26, 1478-1489, (2018). The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports, www.ncbi.nlm.nih.gov/pmc/articles/PMC6138703/.
  • Guo H. et al. Genetics in Medicine, 21, 1611-1620, (2019). Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes, www.ncbi.nlm.nih.gov/pmc/articles/PMC6546556/.

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 SYNCRIP articles can be found here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about SYNCRIP 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

We do not currently have any stories from SYNCRIP families.

Click here to share your family’s story!