IRF2BPL-related disorders

What is the cause of IRF2BPL-related disorders?

IRF2BPL -related disorders are caused by mutations (genetic changes) in the IRF2BPL gene. The protein made by this gene is found in many different organs, including the brain. It is unclear how the protein made by this gene works in the body and why changes in the gene result in these disorders. The IRF2BPL protein may be involved in the regulation and function of other genes.

Last updated on 05-01-20

How are IRF2BPL-related disorders diagnosed?

These disorders are diagnosed based on symptoms and by genetic testing. IRF2BPL -related disorders are diagnosed by at type of genetic testing known as exome sequencing. Exome sequencing is a technology that allows doctors and researchers to study many different genes at the same time. Exome sequencing involves searching the genetic code for mistakes that change how the protein-making parts of a gene work.

Last updated on 05-01-20

What is the long-term outlook for people with IRF2BPL-related disorders?

IRF2BPL -related disorders are progressive, meaning the symptoms get worse over time. People with these disorders may lose the ability to walk, talk, and eat. Over time, they may require placement of a tube into the stomach to aid with feeding as well as a mechanical respirator to help them breath. The long-term outlook for people with these disorders is unclear.

Last updated on 05-01-20

How many people have IRF2BPL-related disorders?

Less than 20 people have been reported in the literature with mutations in the IRF2BPL gene.

Last updated on 05-01-20

How might IRF2BPL-related disorders be treated?

The treatment for people with IRF2BPL -related disorders is focused on treating specific symptoms. Seizures associated with IRF2BPL gene mutations have been reported as being difficult to control with medication.

Last updated on 05-01-20

Name: IFR2BPl Support Group Email: irf2bpl@gmail.com Url: https://www.irf2bpl.org
Name: Stand By Eli Foundation 5757 W. Century Blvd. Suite 400
Los Angeles, CA, 90045,
Phone: 310-649-5222 Fax : 310-649-5070 Url: https://standbyeli.org
Marcogliese PC, Shashi V, Spillmann RC, Strong N et al. IRF2BPL is associated with neurological phenotypes Am J Hum Genet. Sep 2018; 103(3). 245-260. Reference Link Tran Mau-Them F, Guibaud L, Duplomb L, Keren B et al. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy Genet Med. Aug 2018; epub. Reference Link Interferon regulatory factor 2-binding protein like; IRF2BPL Online Mendelian Inheritance in Man. Updated Oct 2018; Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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