2P16.3 (NRXN1) Deletion Resources
2p16.3 (NRXN1) deletions are a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes, called chromosome 2. This deletion can occur spontaneously, or can be inherited.
There is a lot of variation between individuals who have a 2P16.3 (NRXN1) deletion, even within the same family. Some people with 2P16.3 (NRXN1) deletions can develop conditions such as autism, schizophrenia and intellectual disability, while others may not develop any mental health condition. Some research suggests that this is linked to the location and size of the deletion within the NRXN1 gene.
Common characteristics identified among people with 2P16.3 (NRXN1) deletions include:
- Autism
- Intellectual disability or developmental delay
- Speech and language delay
- Sometimes also seizures
What does the NRXN1 gene do?
The NRXN1 gene is involved in producing a protein, called neurexin-1, which has an important role in the function of nerve cells in the brain, called neurons. Neurons are the building blocks of the brain, and they communicate with each other across junctions, called synapses.
A deletion within the NRXN1 gene may cause changes in how neurons function and communicate with each other in the brain, which could have broad effects on how a person thinks and behaves
2P16.3 (NRXN1) deletion Newsletter 2022
2P16.3 (NRXN1) deletion Newsletter 2021
2P16.3 (NRXN1) deletion Research News Updates 2022
New NRXN1 website: this website was created by Marissa Mitchell, a mother of a child with 2P16.3 (NRXN1) deletion as well as a speech-language pathologist and researcher. This website includes lots of information and resources
Click here for the website: NRXN1 Network