Below is a summary for the NRXN1 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
What is NRXN1-related syndrome?
NRXN1-related syndrome happens when a small section of the NRXN1 gene is missing. This change can keep the gene from working as it should. Even a tiny piece of missing DNA can affect how the gene works.
The NRXN1 gene plays a key role in the development of communication skills, social skills, and learning skills
Because the NRXN1 gene is important for development, many people who have NRXN1-related syndrome have:
- Developmental delay, or intellectual disability, or both
- Speech and language delay
- Autism spectrum disorder or features of autism
- Other behavior issues, such as attention deficit hyperactivity disorder, also called ADHD
How many people have NRXN1-related syndrome?
As of 2018, doctors had found about 100 people in the world with changes in the NRXN1 gene. The first case of NRXN1-related syndrome was described in 2008. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Do people who have NRXN1-related syndrome look different?
People who have NRXN1-related syndrome generally do not look different.
Most people who have NRXN1-related syndrome have some degree of intellectual disability. A study of 15 people who have the syndrome found that more than 90 percent had an intellectual disability.
Most people who have NRXN1-related syndrome have problems with communication. A study of 12 people found that 75 percent had language difficulties.
People who have NRXN1-related syndrome can have autism or features of autism. A study of 17 people found that about 70 percent had autism or features of autism and about 40 percent had ADHD.
Research Article Summaries