Learn more about SLC9A6 (also known as NHE6) and connect with other Simons Searchlight families with the resources below.
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. SLC9A6-related syndrome is also called Christianson syndrome.
The SLC9A6 gene plays a key role in communication between brain cells.
Because the SLC9A6 gene is important in the development and function of brain cells, many people who have SLC9A6-related syndrome have:
- 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
- Autism or features of autism
- Sleep problems
Do people who have SLC9A6-related syndrome look different?
People who have SLC9A6-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Small head
- Low weight and short height
- A long, narrow face
- Thick eyebrows
- Eyes that look in different directions
- A mouth held in an open position, with drooling
- More than one-third of female carriers have attention issues, including attention deficit hyperactivity disorder or ADHD (12/33, or 36 percent).
- A few receive a psychiatric diagnosis, such as schizoaffective disorder (8/52, or 15 percent).
- A few have autism (2/20, or 10 percent).
- About one-third have intellectual disability (19/52, or 37 percent). Among those who do not have an intellectual disability or developmental delay, more than one-third have learning difficulties (6/15, or 40 percent).
- The majority of female carriers have difficulty processing visual and spatial relationships among objects (8/13, or 62 percent).
- Some have problems with short and long-term memory (4/13, or 31 percent).
Speech and language are delayed in about one-third of female carriers (6/20, or 30 percent).
Learn more about the SLC9A6 gene and connect with other Simons Searchlight families with the resources below:
Research Article Summaries