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What is IRF2BPL?
The Gene
The role of our genes is to produce proteins. Proteins are used to regulate the body’s tissues and organs. IRF2BPL is a gene that encodes a protein called Interferon Regulatory Factor 2 Binding Protein-Like. This protein is involved in the regulation of gene expression and plays a role in various cellular processes within the brain and central nervous system.
Mutations to the IRF2BPL gene are known to cause a neurodegenerative disorder called Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS).
The IRF2BPL gene itself was discovered in 2000 and a disorder of the gene was only able to be isolated in 2018. There is still much to learn about the gene itself and how changes to it affect patients. Diagnosis can only be confirmed through genetic testing.
3D Structure and Sequence of the IRF2PBL Gene
The Disorder
IRF2BPL-Related Disorder is a neurodegenerative disorder that happens when there are mutations to the IRF2BPL gene. A mutation is a mistake that happens, similar to a typo, when the DNA is copied from cell to cell.
Our genes contain the instructions that tell our cells how to grow and work. Genes control things like our hair color, height, or why some illnesses may run in families. Every child gets two copies of the IRF2BPL gene, one from each parent. Sometimes, a random change occurs in these copies causing a disruption in those genetic instructions, this is called a "de novo", or new, change. The majority of documented IRF2BPL cases are de novo in nature.
It is important to remember that no parent causes their child's genetic changes. The change takes place spontaneously and cannot be predicted or stopped.
Advancing our understanding of IRF2BPL-Related Disorder is essential for developing effective treatments and improving the quality of life for affected individuals and their families.
Symptoms
In years past, it was believed that children with IRF2BPL-Related Disorder developed normally and in early childhood showed a regression of skills, ultimately losing the abilities to walk, talk, eat and care for themselves. As more cases arise, we are learning that these may not always be the case. Now, with more understanding, we are beginning to identify IRF2BPL-Related Disorder earlier in patients, in some cases in the first few months of life.
It is important to remember that symptoms of IRF2BPL-Related Disorder can vary in severity and age of onset. Not all patients will experience all symptoms. It is not known what causes symptoms to occur or their severity.
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Symptoms of IRF2BPL-Related Disorder (NEDAMSS) can include:​
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Neurological Regression
Loss of speech
Seizures
Loss of motor function
Difficulty swallowing
Dystonia
Autism Spectrum Disorder
Developmental Delay
Inability to care for self
Treatment
There is no known cure or treatment for IRF2BPL-Related Disorder. Symptomatic treatment focuses on managing symptoms for those affected. This can include anti-seizure medications, as well as intense therapies. These therapies can help IRF2BPL patients improve their skills and reach milestones. The most common therapies patients receive are Physical Therapy, Occupational Therapy, Speech Therapy, Developmental Therapy and Applied Behavioral Analysis (ABA) Therapy. Multidisciplinary care involving neurologists, geneticists, therapists, and other specialists is often necessary to address the complex needs of affected individuals.
If you would like to help us find a safe and effective treatment for IRF2BPL-Related Disorder, consider donating to Tough Genes today.
