SLC9A6
The information for this summary of SLC9A6-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full SLC9A6 Gene Guide
The online Gene Guide includes more information about SLC9A6 such as the chance of having another child with this condition, behavior and development concerns linked to SLC9A6-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
SLC9A6-related syndrome is also called Christianson syndrome and intellectual developmental disorder, X-linked syndromic, Christianson type. For this webpage, we will be using the name SLC9A6-related syndrome to encompass the wide range of variants observed in the people identified.
What is SLC9A6?
SLC9A6-related syndrome happens when there are changes to the SLC9A6 gene. These changes can keep the gene from working as it should. The SLC9A6 gene has also been called NHE6.
Key Role
The SLC9A6 gene plays a key role in controlling other genes, especially in a region of the brain called the cerebral cortex.
Symptoms
Because the SLC9A6 gene is important for brain activity, many people who have SLC9A6-related syndrome have:
- Seizures
- Severe intellectual disability, developmental delay, or both
- Small head
- Delayed or absent speech
- Movement disorders
- Regression, which may involve losing words or the ability to walk
- Low muscle tone
- Muscle contractures
- Autism or features of autism
- Sleep problems
- Brain changes observed on magnetic resonance imaging (MRI)
How many people have SLC9A6-related syndrome?
As of 2024, about 95 people with SLC9A6-related syndrome have been described in medical research.
Learn more about the SLC9A6 gene and connect with other Simons Searchlight families with the resources below:
Support Resources
- Simons Searchlight Community – SLC9A6 Facebook group
- Geisinger Developmental Brain Disorder Gene Database – SLC9A6
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 Christianson Syndrome.
Research Article Summaries
We currently do not have any article summaries for SLC9A6, but we add resources to our website as they become available.
The information available about SLC9A6 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 SLC9A6 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about SLC9A6 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.
Family Stories
We do not currently have any stories from SLC9A6 families.
Click here to share your family’s story!