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 the CUL7 gene was identified in a male, age 13 with intellectual disability, absent speech, seizures, abnormality of brain white matter (periventricular leukomalacia), and excess curvature of the spine (kyphosis, scoliosis) (read full description).
Feb 21, 2019
The CUL7 gene codes for a protein involved in the ubiquitin-proteasome system responsible for disposal of excess or unnecessary proteins (Skaar JR, Arai T, Decaprio JA, 2005)
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!