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 TTI2 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
TELO2 interacting protein 2
The TTI2 gene codes for a protein involved in the DNA damage response (NCBI Gene).
Genetics Home Reference: TTI2 gene
NCBI Gene: 80185
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 TELO2 gene, is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!