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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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.
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.
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.
32 percent of people who have DLG4 -related syndrome have abnormal brain MRI findings
Research Article Summaries
Previous Registry Reports