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Below is a summary for the HECW2 gene observed in the following research publication:
This is not meant to take the place of medical advice.
What is HECW2-related syndrome?
HECW2-related syndrome happens when someone has a change in the HECW2 gene. This gene is also called NEDL2. Changes in the HECW2 gene can cause problems in the communication between brain cells.
Key Role
The HECW2 gene contains the instructions for making the HECW2 protein. This protein interacts with other proteins that are important for brain development.
Symptoms
Most people who have HECW2-related syndrome have:
- Developmental delays (100 percent)
- Intellectual disability (100 percent)
- Low muscle tone (100 percent)
- Autism spectrum disorder
- Eye problems, such as optic neuropathy, cortical visual impairment, and ocular movement disorders (84 percent)
Other common symptoms include:
- Gastrointestinal problems, such as trouble swallowing, problems with digestion, acid reflux, and constipation
- Epilepsy
Do people who have HECW2-related syndrome look different?
People who have HECW2-related syndrome may look different. Appearance can vary and may include one or more of these features:
- Forehead that sticks out
- Nasal bridge that sticks out
- Deep-set eyes
- Concave-shaped face
- Roof of mouth with a high arch
BRAIN
Seizures are reported in about 70 percent of people who have HECW2-related syndrome
Support Resources
- Simons Searchlight Community – HECW2 Facebook group
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 is currently no GeneReviews for HECW2.
Research Article Summaries
We currently do not have any article summaries for HECW2, but we add resources to our website as they become available.
The information available about HECW2 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 HECW2 articles can be found here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about HECW2 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.