DLG4

Below is a summary for the DLG4 gene observed in the following research publication:

  • Rodríguez-Palmero, A., Boerrigter, M.M., Gómez-Andrés, D. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888–899 (2021). [Nature] [02/2021].

This is not meant to take the place of medical advice.

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The latest Simons Searchlight report includes updated information on your genetic community and features a special spotlight on the global geographical distribution of families.

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What is DLG4-related syndrome?

DLG4-related syndrome happens when there are changes to the DLG4 gene. These changes prevent the gene from working as it should. DLG4-related syndrome is also called SHINE syndrome and DLG4-related synaptopathy.

Key Role

The DLG4 gene contains the instructions for making a protein called PSD-95. The PSD-95 protein plays a key role in communication between brain cells. This communication happens in the spaces between brain cells called synapses. This is why the syndrome is also called DLG4-related synaptopathy.

Symptoms

Most people who have DLG4-related syndrome have:

  • Intellectual disability (98 percent)
  • Developmental delays in early childhood (84 percent)

Other common symptoms include:

  • Epilepsy (53 percent)
  • Autism spectrum disorder (55 percent)

Do people who have DLG4-related syndrome look different?

People who have DLG-4 related syndrome may look different. Appearance can vary and may include one or more of these features:

  • Long face
  • Thin eyebrows
  • Thin upper lip
  • Wide nasal bridge
  • Broad nose tip

How many people have DLG4-related syndrome?

As of 2023, about 74 people with DLG4-related syndrome have been identified in medical research. Fewer people have been described in medical detail.

BRAIN

32 percent of people who have DLG4-related syndrome have abnormal brain MRI findings

Learn more about the DLG4 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.

Check out the GeneReviews for DLG4.

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Research Article Summaries

We currently do not have any article summaries for DLG4, but we add resources to our website as they become available. The information available about DLG4 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. 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 DLG4 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about DLG4 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

We do not currently have any stories from DLG4 families. Click here to share your family’s story!

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Previous Quarterly Reports