Nijmegen breakage syndrome (NBS)

Causes

What causes Nijmegen breakage syndrome?

NBS is caused by a mutation (change) in a gene. A gene is an instruction to our bodies on how to function and develop. The gene that has a mutation in NBS is most often called the NBS1 gene. It is also known as the NBN gene. When there is a mutation in the NBN gene, it cannot do its job as well. This causes someone to have NBS.

References
  • Nijmegen breakage syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/nijmegen-breakage-syndrome
  • Chrzanowska, KH et al. Nijmegen breakage syndrome (NBS). Orphanet Journal of Rare Diseases 2012, 7:13. doi: 10.1186/1750-1172-7-13
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What happens when the NBN gene has a mutation?

Does anything make Nijmegen breakage syndrome worse?

Do mutations in the NBN gene cause the disorder Nijmegen breakage syndrome?

Can Nijmegen breakage syndrome be caused by anything other than a mutation in the NBN gene?

What happens when the NBN gene has a mutation?

When there is a mutation in the NBN gene it causes Nijmegen breakage syndrome and problems for the body. Specifically, the NBN gene plays a role in helping protect our DNA (our genetic information) from damage. The NBN gene works with other genes to protect our DNA from breaking. When it cannot do its job as well, our DNA breaks more often than we expect it to. This can lead to what is called "chromosomal instability". Our chromosomes are what our DNA is packaged into. When our chromosomes show "instability", it means that they are more likely to break apart when they are damaged. This increased risk of breaking is what causes the features of this syndrome.

References
  • NBN Gene. GeneCards. http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBN
Does anything make Nijmegen breakage syndrome worse?

The majority of features of Nijmegen breakage syndrome (NBS) happen when we are born and there is nothing we can do to prevent them or cause them. However, there is an increased risk of cancer with NBS. Cancer risks can be modified slightly by environmental factors. People with NBS are about 50 times more likely to get cancer than people without NBS. The most common type of cancer in NBS is called non-Hodgkin lymphoma. This is a cancer that starts in the blood. Other types of cancer are brain cancer and a cancer of the muscles called rhabdomyosarcoma.

References
  • Nijmegen breakage syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/nijmegen-breakage-syndrome
Do mutations in the NBN gene cause the disorder Nijmegen breakage syndrome?

People with mutations in the NBN gene have the disorder Nijmegen breakage syndrome. Most individuals with this disorder are born with all of the features associated with the disorder including short stature, microcephaly, certain facial features, respiratory tract infections, and mental retardation. The only part of the disorder they are predisposed for is the risk for cancer. This means that there is not a 100% chance they will get cancer. They are 50 times more likely to get cancer than individuals without NBS.

References
  • Nijmegen breakage syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/nijmegen-breakage-syndrome
Can Nijmegen breakage syndrome be caused by anything other than a mutation in the NBN gene?

No, currently the NBN gene is the only gene known to cause NBS.

References
  • Nijmegen breakage syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/nijmegen-breakage-syndrome

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