Learn About Nijmegen Breakage Syndrome

What is the definition of Nijmegen Breakage Syndrome?

Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.

Save information for later
Sign Up
What are the causes of Nijmegen Breakage Syndrome?

Mutations in the NBN gene cause Nijmegen breakage syndrome. The NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA. DNA can be damaged by agents such as toxic chemicals or radiation. Breaks in DNA strands also occur naturally when chromosomes exchange genetic material in preparation for cell division. Repairing DNA prevents cells from accumulating genetic damage that can cause them to die or to divide uncontrollably. The nibrin protein helps maintain the stability of a cell's genetic information through its roles in repairing damaged DNA and regulating cell division.

How prevalent is Nijmegen Breakage Syndrome?

The exact prevalence of Nijmegen breakage syndrome is unknown. This condition is estimated to affect one in 100,000 newborns worldwide, but is thought to be most common in the Slavic populations of Eastern Europe.

Is Nijmegen Breakage Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Nijmegen Breakage Syndrome Local Doctors?
Elite
Distinguished
 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
What are the latest Nijmegen Breakage Syndrome Clinical Trials?
Clinical Open-label Phase 2 Study of Low Dose Treosulfan Based Conditioning Regimen Efficacy in Hematopoietic Stem Cell Transplantation for Children With Nijmegen Breakage Syndrome
Summary: The aim of the current study is to evaluate the safety and efficacy of low dose treosulfan based conditioning regimen in HSCT in Nijmegen breakage syndrome
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: May 01, 2017Published By: National Institutes of Health

What are the Latest Advances for Nijmegen Breakage Syndrome?
Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.
Summary: Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.
Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.
Summary: Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.
Tired of the same old research?
Check Latest Advances