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On this page, you will find information about a genetic change that was identified in a UDN participant.
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 female, age 8 with intractable seizures, large head size (macrocephaly), global developmental delay, and abnormal posturing due to involuntary muscle contractions (dystonia) (read full description).
Apr 16, 2020
PTPRF interacting protein alpha 3
PPFIA3, also called Liprin-alpha-3, is a member of the liprin family. Liprins interact with members of the LAR family, which are important for guiding axons and mammary gland development. This protein may regulate cell focal adhesions (Serra-Pagès et al., 1998).
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!