IRF2BPL

Changes in the IRF2BPL gene were identified in two UDN participants (Marcogliese et al, 2018). We are interested in learning more about the findings and symptoms of individuals with changes in the IRF2BPL gene. This condition is also known as Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS). We have created a database to collect health care information on individuals affected with this condition. There are no additional visits, blood draws, or other investigations that are required to participate in this study. We are hoping that, by collecting this information, we will be able to understand the symptoms and complications associated with the condition and utilize this information to best care for individuals with this condition. If you would like to receive additional information, please contact Dr. Loren Pena at loren.pena@cchmc.org. 

The changes identified in the UDN participants are as follows:

Participant 031, a 6-year-old male with developmental regression, hypotonia, difficulty controlling voluntary movements (limb and truncal ataxia), and lack of coordination was found to carry the following genetic change in the IRF2BPL gene:

• c.514G>T/p.Glu172Ter (position: chr14:g.77493622C>A, transcript: NM_024496.3)

Participant 044, a 20-year-old male with developmental regression, paralysis (spastic tetraplegia), and brain damage (cerebellar atrophy) was found to carry the following genetic change in the IRF2BPL gene:

• c.562C>T/p.Arg188Ter (position: chr14:g.77493574G>A, transcript: NM_024496.3)