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 ASXL2 gene was identified in a male, age 8 who is larger than average (macrosomia), has a large birthmark on his forehead (glabellar hemangioma), a decrease in brain white matter (cerebral white matter atrophy), and learning difficulties (Shashi-Pena syndrome) (read full description).
Jul 01, 2016
Additional sex combs-like 2
The ASXL2 gene is the human homolog of the Drosophila asx gene. The asx gene enhances the function of a gene that codes for a protein involved in transcriptional activation and silencing (Katoh and Katoh, 2003).
Interested in learning more about this gene or sharing what you know? Contact us!