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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 male, age 14 with gross motor and language delay, borderline intellectual disability, and damage to the optic nerve (optic atrophy) (read full description).
Jun 17, 2019
pumilio RNA binding family member 2
The PUM2 gene codes for an RNA binding protein that is highly conserved through evolution (Spassov DS., Jurecic R., 2002).
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!