Nijmegen breakage syndrome is a rare genetic disorder characterized by microcephaly (small head size) at birth, immunodeficiency and increased cancer risk. It is caused by the lack of a functional nibrin protein, which is required to properly repair damaged DNA.
Our DNA can be damaged when our cells are exposed to radiation and toxic chemicals. Normally, these breaks are quickly repaired. However, people with Nijmegen breakage syndrome produce an abnormally short nibrin protein, so these DNA breaks can’t be properly repaired, leading to the symptoms of the disease.
Take this test to find out if you are a genetic carrier for Nijmegen breakage syndrome and are at risk of passing a variant to your children.
Nijmegen breakage syndrome is caused by genetic variation in the NBN gene. This gene provides instructions for the nibrin protein involved in DNA repair.
Affected people produce an abnormal version of the nibrin protein with reduced function. As a result, DNA breaks are not properly repaired, and the immune system of affected people is also affected.
Nijmegen breakage syndrome is inherited in an autosomal recessive pattern, which means two defective copies of the NBN gene must be inherited in order for the disease to manifest.
This test detects a genetic variant in the NBN gene, which is the most common cause of Nijmegen breakage syndrome in individuals of Eastern European descent.
- rs587776650 deletion
Understanding your carrier status for this variant will help you understand the risk of passing it to your children.
- Small sized head (microcephaly)
- Slow growth resulting in short stature
- Sloping forehead
- Prominent nose
- Large ears
- Small jaw and eyes
- Defective immune system (immunodeficiency)
- Highly susceptible to recurrent infections (eg. bronchitis, pneumonia, sinusitis and lung infections)
- Extremely high risk of cancer
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.