Below is a summary for NRXN1-related disorder or 2p16.3 deletion syndrome 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 disorder or 2p16.3 deletion syndrome?
NRXN1-related disorder 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.
NRXN1-related disorder is also called 2p16.3 deletion syndrome. Both conditions are caused by a deletion in the NRXN1 gene, which is missing when a person has a 2p16.3 deletion. A person has 2p16.3 deletion syndrome or NRXN1-related disorder when there is one non-working or missing NRXN1 gene.
There is a different condition named Pitt Hopkins-like syndrome 2, which occurs when a person has two NRXN1 genes that are not working or missing.
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 disorder 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
Do people who have NRXN1-related disorder look different?
People who have NRXN1-related disorder generally do not look different.
How many people have NRXN1-related disorder?
As of 2018, doctors had found about 100 people in the world with changes in the NRXN1 gene. The first case of NRXN1-related disorder was described in 2008. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Most people who have NRXN1-related disorder 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 disorder have problems with communication. A study of 12 people found that 75 percent had language difficulties.
People who have NRXN1-related disorder 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