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IRF2BPL

On this page, you will find information about genetic changes that were identified in UDN participants. 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.

Changes in this gene were identified in UDN participants with Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) (read full descriptions: Participant 031, Participant 044).

Date of Report

Jan 04, 2018

Full Name

Interferon regulatory factor 2 binding protein like

Location
Chromosome 14 (14q24.3)
IRF2BPL.chr14.77493622.png

Function

The IRF2BPL gene is thought to be a transcriptional activator, may be an E3 ubiquitin ligase, and is expressed in many organs including the central nervous system. This gene has been associated with a condition called Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) (Marcogliese et al., 2018).

 

Database Links

GeneCards: IRF2BPL

NCBI Gene: 64207

OMIM: 611720

UniProtKB/Swiss-Prot: Q8K3X4

Clinical Significance

Changes in the IRF2BPL gene were identified in two UDN participants (Marcogliese et al, 2018). 

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)
Gene IRF2BPL
Inheritance Pattern Autosomal dominant
Position (hg19) see gene page
Transcript see gene page
DNA Change see gene page
Protein Change see gene page

Ongoing Research:

  • 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.

Foundations/Support Groups:

Scientific Publications:

Additional Information:

 

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!

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