If any of these participants sound like you or someone you know, please contact us!Contact Us
On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a female, age 5 with brain abnormalities, flow of urine from bladder to kidneys (vesicoureteral reflux), global developmental delay and atrial septal defect (read full description).
Sep 28, 2021
chromodomain helicase DNA binding protein 2
The CHD2 gene codes for a member of the chromodomain helicase DNA-binding family of proteins. These proteins regulate gene expression through chromatin remodeling (Carvill et al., 2013).
Changes in the CHD2 gene have been found in individuals with childhood-onset epileptic encephalopathy (OMIM).
The following de novo genetic change was also identified in a UDN participant. In addition to this change, there is a nearby deletion of the non-coding gene CHASERR. These changes may cause overexpression of CHD2 leading to the participant’s symptoms.
Interested in learning more about this gene or sharing what you know? Contact us!