Below is a summary for the NRXN1 gene observed in research publications. This is not meant to take the place of medical advice.
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