If any of these participants sound like you or someone you know, please 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 TELO2 gene was identified in a male who passed away at age 2 with symptoms characteristic of You-Hoover-Fong syndrome (read full description).
Jan 25, 2019
telomere maintenance 2
TELO2 codes for a protein that has a critical role in checkpoint responses to cellular stress (Takai et al., 2007).
Genetics Home Reference: TELO2
NCBI Gene: 9894
A change in this gene was identified in a UDN participant. Research is underway to see if this change, along with a change in the TTI2 gene, is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!