Nijmegen Breakage Syndrome

Nijmegen Breakage Syndrome (NBS) is a rare inherited chromosomal instability disorder characterized by microcephaly (small head size), distinctive facial features, short stature, immunodeficiency, radiation sensitivity, and a dramatically increased risk of cancer. It was first described in patients from the Netherlands city of Nijmegen.

Affected individuals are born with microcephaly that becomes more pronounced with age. The characteristic facial appearance includes a receding forehead and chin, prominent midface with a long nose, and slightly upslanting eyes. Intelligence varies but most individuals have mild to moderate intellectual disability. Short stature is common.

The immunodeficiency in NBS primarily affects antibody production, leading to recurrent respiratory and sinus infections. Cancer risk is dramatically elevated, with approximately 40% of affected individuals developing malignancies, most commonly lymphomas, by age 20. Affected individuals also have extreme sensitivity to radiation, making X-rays and radiation therapy dangerous.

NBS is caused by mutations in the NBN gene (also called NBS1), which encodes a protein involved in DNA double-strand break repair. The condition is inherited in an autosomal recessive pattern. A specific founder mutation (657del5) is particularly common in Slavic populations. Management includes prophylactic antibiotics, immunoglobulin replacement, cancer surveillance, and strict avoidance of ionizing radiation.

NutraHacker examines the following gene related to Nijmegen Breakage Syndrome:

• NBN

For more information about your own genetic profile as related to Nijmegen Breakage Syndrome, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.