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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 ANKZF1 gene was identified in a UDN participant with decline in language and memory (cognitive regression), sudden muscle jerks (myoclonus), and increased muscle tone in lower limbs (limb hypertonia)
Mar 20, 2023
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
ANKZF1 gene plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under cellular stress (Haaften-Visser et al., 2017).
A homozygous 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!