Paula and Bobby
Parents of Lillie
Nijmegen Breakage syndrome
What is Nijmegen Breakage syndrome?
It is a rare genetic syndrome that seems to be more prevalent amongst the Slavic populations of Eastern Europe. It is defined by a short stature, a very small head, intellectual disability and an increased risk of cancer.
What gene changes cause Nijmegen Breakage syndrome?
Changes in the NBN gene are responsible for causing the syndrome. It is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Nijmegen Breakage syndrome?
Slow growth during infancy is one of the main symptoms of the syndrome. The rate of growth usually normalizes after early childhood but affected individuals remain shorter than average.
Distinct facial features of the syndrome include a very small head, a sloping forehead, prominent nose, large ears, and a small jaw. These distinct features are usually noticed in early childhood.
The syndrome also presents with an immune system that does not function properly due to low levels of immune system proteins. This in turn leads to a shortage of immune system cells ( T cells) leaving individuals with the syndrome more susceptible to infections that reoccur. These infections include bronchitis, pneumonia and sinusitis.
Affected individuals also have a higher chance of developing cancer. Specifically non-Hodgkin lymphoma. 50% of affected individuals develop this form of cancer before their 15th birthday. Individuals are also at a higher risk for developing brain tumors and a cancer of the muscle tissue. They are believed to be 50 times more likely to develop cancer than those without the syndrome.
Intellectual disability develops with time, and children who were developing normally tend to regress with their development.
The syndrome also affects the reproductive systems of females leading to delayed puberty and infertility.
How does someone get tested for Nijmegen Breakage syndrome?
The initial testing for Nijmegen Breakage syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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