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 2024
2P16.3 (NRXN1) deletion Newsletter 2022
2P16.3 (NRXN1) deletion Newsletter 2021
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
Ned and Nelly’s NRXN1 Deletion Story: NRXN1 Deletion Story Book for families with NRXN1 Deletion
Project Leads: Prof Louise Gallagher and Dr Ciara Molloy
This project aimed to create resources for families with NRXN1 deletion. There isn’t a lot information about NRXN1 deletions that is easy to understand for parents or their children when they receive a diagnosis. The creation of the storybook has impacted families with NRXN1 deletions by creating materials to help them to learn about this rare condition together. A feedback survey indicated that not only would families find the storybook useful, but perhaps that it may also be useful for “general public awareness”. The creation of the storybook may help to increase knowledge and awareness of rare genetic conditions and highlight ways to increase understanding of neurodiversity. It is hoped that the storybook fosters the feeling of inclusion for people with NRXN1 deletions. Although it is rare, it is still important to have useful information to help learn about and understand the condition.
A draft of the storybook was presented at an online lunchtime event to families affected by NRXN1 deletions and to get their feedback. The event took place on February 25th 2020, during Rare Disease Week, to highlight the work of this research group on rare genetic conditions and building useful resources to promote neurodiversity at TCD. The storybook content was then finalised based on feedback from families.
If you would like to receive copies of this book please contact Dr Ciara Molloy at Ciara.molloy@tcd.ie