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.
Changes in the TLN2 gene were identified in a male, age 9, with seizures, developmental delay, and enlarged ears (macrotia) (read full description).
Mar 03, 2022
Talin 2
The TLN2 gene encodes for increased production of phosphatidylinositol-4,5-bisphosphate through the interaction with PIP5k1C (Di Paolo et al., 2002).
Changes in this gene were 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!