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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 the P3H1 gene was identified in a male, age 10 with arthrogryposis multiplex congenita, low muscle tone (muscle hypotonia), and low bone density (osteopenia) (read full description).
May 08, 2018
prolyl 3-hydroxylase 1
The P3H1 gene codes for a protein involved in collagen biosynthesis, folding, and assembly (Vranka et al., 2004).
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!