Contents
[hide]
[show]

Nijmegen Breakage Syndrome (NBS) is a rare genetic condition that affects the immune system and increases the risk of developing cancer. The syndrome is named after the Dutch city where it was first discovered, and it is estimated to occur in about 1 in 100,000 people worldwide.

The main characteristic of Nijmegen Breakage Syndrome is an increased sensitivity to radiation, which causes breaks in the DNA of cells. This sensitivity prevents damaged cells from repairing themselves properly, leading to an increased risk of infections and other diseases. NBS is also associated with immunodeficiency, which means that the immune system is unable to function properly, making it difficult for the body to fight off infections.

Research on Nijmegen Breakage Syndrome is ongoing, with scientists studying the genetic mutations that cause the condition. Studies have shown that mutations in the NBN gene are responsible for NBS. The NBN gene provides instructions for making a protein called nibrin, which plays a key role in repairing DNA. Mutations in this gene prevent the protein from working properly, leading to the cellular abnormalities seen in NBS.

There is currently no cure for Nijmegen Breakage Syndrome, and treatment focuses on managing the symptoms and reducing the risk of infections and cancer. Regular testing and preventive measures, such as immunoglobulin replacement therapy, can help improve the quality of life for patients with NBS.

Clinical trials are underway to investigate new treatments for Nijmegen Breakage Syndrome. Researchers are also studying the condition to learn more about its causes, inheritance patterns, and associated cancers. Resources and advocacy groups for NBS provide support and information for affected individuals and their families.

For more information on Nijmegen Breakage Syndrome, you can visit the websites of organizations like the Nijmegen Center for Molecular Life Sciences, OMIM, PubMed, or ClinicalTrials.gov. These resources provide additional articles, references, and genetic testing information for patients and their caregivers.

Interestingly, Americans show more favor toward Medicare for All healthcare initiatives than they do toward these efforts when they are labeled as “single payer,” most likely due to the popularity of the Medicare program, STAT

In conclusion, Nijmegen Breakage Syndrome is a rare genetic condition that affects the immune system and increases the risk of developing cancer. Ongoing research is working to learn more about the genetic mutations that cause the condition and to develop new treatments. Advocacy groups and resources provide support and information for affected individuals and their families.

Frequency

Nijmegen breakage syndrome (NBS) is a rare genetic disorder characterized by immunodeficiency, increased cancer susceptibility, and other clinical features. According to the Online Mendelian Inheritance in Man (OMIM) catalog, the syndrome occurs with a frequency of 1 in 100,000 to 1 in 200,000 live births.

The increased risk of cancer in individuals with Nijmegen breakage syndrome has been well-documented. Patients with this condition have a higher likelihood of developing certain cancers, including non-Hodgkin lymphoma and other malignancies. It is thought that the genetic mutations causing NBS prevent normal DNA repair mechanisms from working properly, leading to an increased accumulation of genetic abnormalities that can promote the growth of cancer cells.

In addition to its association with cancer, Nijmegen breakage syndrome also leads to immunodeficiency, meaning that individuals with this condition have a weakened immune system and are more susceptible to infections. The frequent infections experienced by NBS patients are thought to be a result of the dysfunction in their immune system.

Testing for Nijmegen breakage syndrome can be done through laboratory analysis of the NBN gene. Genetic testing helps confirm the diagnosis and provides valuable information for patients and their families. Proper genetic counseling and testing are important for understanding the inheritance patterns of NBS and making informed decisions regarding family planning.

Research and scientific studies on Nijmegen breakage syndrome are ongoing to learn more about the causes, genetic basis, associated diseases, and effective treatment options. The Nijmegen Breakage Syndrome Center and other advocacy and support groups provide resources and information for people affected by this rare genetic condition.

Frequency Summary:

  • Nijmegen breakage syndrome is a rare genetic disorder.
  • Its frequency is estimated to be around 1 in 100,000 to 1 in 200,000 live births.
  • Individuals with NBS have an increased risk of developing certain cancers, such as non-Hodgkin lymphoma.
  • The syndrome also causes immunodeficiency, leading to a higher susceptibility to infections.
  • Genetic testing can confirm the diagnosis and provide valuable information for counseling and family planning.
  • Ongoing research aims to understand the genetic basis and associated diseases of Nijmegen breakage syndrome.

References and Additional Resources:
Scientific Articles: Cooper, DN. The clinical manifestations of NBS1 deficiency. Mutat Res. 2006; Breaks, FJ. Nijmegen breakage syndrome. Handbook of Hereditary Cancer Syndromes. 2017;
OMIM: https://omim.org/entry/251260
PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=nijmegen+breakage+syndrome
ClinicalTrials.gov: https://clinicaltrials.gov/ct2/results?cond=Nijmegen+Breakage+Syndrome&term=&cntry=&state=&city=&dist=
Advocacy and Support: https://www.nbscience.com/nijmegen-breakage-syndrome-nbs/

Causes

Nijmegen breakage syndrome (NBS) is a rare genetic condition caused by mutations in the NBN gene. The NBN gene provides instructions for making a protein called nibrin, which is involved in repairing DNA breaks and maintaining the stability of the genome.

Most cases of Nijmegen breakage syndrome are inherited in an autosomal recessive manner, which means that both copies of the NBN gene in each cell have mutations. The parents of an individual with Nijmegen breakage syndrome each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Scientific research has identified more than 70 different mutations in the NBN gene that are associated with Nijmegen breakage syndrome. These mutations disrupt the functioning of the nibrin protein, leading to an increased susceptibility to DNA damage and a reduced ability to repair DNA breaks.

Exposure to radiation, such as X-rays or radiation therapy, can increase the risk of developing Nijmegen breakage syndrome. It is thought that the impaired DNA repair mechanism in individuals with NBS makes them more susceptible to the damaging effects of radiation.

In addition to radiation, there are no known environmental or lifestyle factors that are associated with an increased risk of Nijmegen breakage syndrome. The condition is primarily caused by genetic mutations.

Individuals with Nijmegen breakage syndrome have an increased risk of developing certain types of cancers, including non-Hodgkin lymphoma and other malignancies. It is thought that the impaired DNA repair mechanism in NBS increases the likelihood of genetic mutations that can lead to the development of cancer.

Further research is needed to fully understand the causes and mechanisms of Nijmegen breakage syndrome, as well as to develop effective treatments and preventive measures. Clinical testing and genetic counseling are available for individuals and families who may be at risk of NBS.

For more information about Nijmegen breakage syndrome, its causes, and genetic testing, you can refer to resources such as the Nijmegen Breakage Syndrome Support Center, OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and ClinicalTrials.gov for ongoing research studies.

See also  Microcephaly-capillary malformation syndrome
References:
  1. Nijmegen Breakage Syndrome Support Center
  2. OMIM: Nijmegen breakage syndrome
  3. PubMed
  4. ClinicalTrials.gov

Learn more about the gene associated with Nijmegen breakage syndrome

Nijmegen breakage syndrome (NBS) is a rare genetic condition that affects the growth and development of children. The syndrome is characterized by an increased susceptibility to infections, immunodeficiency, and a higher risk of developing certain cancers, particularly non-Hodgkin lymphoma. NBS is thought to be caused by mutations in the NBN gene, also known as the Nijmegen breakage syndrome 1 gene.

The NBN gene provides instructions for making a protein called nibrin. Nibrin is involved in the repair of DNA damage, particularly the repair of DNA double-strand breaks. These breaks can be caused by various factors, including radiation exposure. In people with Nijmegen breakage syndrome, mutations in the NBN gene prevent the production of functional nibrin, leading to a defective DNA repair system.

Research studies have found that the frequency of NBN gene mutations is higher in populations with a history of consanguineous marriages. Additionally, studies have shown that NBN gene mutations can also be found in people of non-consanguineous backgrounds.

Testing for NBN gene mutations can be done through genetic testing services or specialized laboratories. The identification of NBN gene mutations can help confirm a diagnosis of Nijmegen breakage syndrome in a patient. Genetic testing can also be useful for carriers and family members of affected individuals who may also carry the NBN gene mutation.

For more information on Nijmegen breakage syndrome and the NBN gene, there are several resources available:

  • Nijmegen Breakage Syndrome Patient Support Group: A patient advocacy group that provides information, resources, and support for individuals and families affected by Nijmegen breakage syndrome.
  • Nijmegen Breakage Syndrome Catalog: A catalog of known NBN gene mutations and associated clinical features, curated by the Nijmegen Breakage Syndrome Patient Support Group.
  • PubMed: A scientific research database where you can find additional articles and studies on Nijmegen breakage syndrome and the NBN gene.
  • Nijmegen Breakage Syndrome Resources: A collection of educational materials and resources regarding Nijmegen breakage syndrome and related topics, provided by the Center for Genetic Research.

Learning more about the gene associated with Nijmegen breakage syndrome can help individuals understand the underlying causes of the condition and provide support for affected individuals and their families. Continuing research and scientific studies are working towards a better understanding of the genetic basis of NBS and the development of potential treatment options.

Inheritance

Nijmegen breakage syndrome (NBS) is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the syndrome.

The gene responsible for NBS is called NBN, which stands for Nibrin. Mutations in the NBN gene result in a dysfunctional protein that is essential for the repair of DNA breaks. When DNA breaks occur, the protein encoded by the NBN gene helps to coordinate the repair process and prevent errors that can lead to genetic instability.

Individuals with NBS have a higher frequency of breaks in their DNA, which can cause a wide range of clinical features. The most common features include growth retardation, intellectual disability, immune system dysfunction, and an increased risk of developing cancer, particularly non-Hodgkin lymphoma.

The inheritance pattern and clinical symptoms of NBS can vary among affected individuals. Some individuals may have a milder form of the condition, while others may have more severe symptoms. Genetic testing can be performed to confirm a diagnosis of NBS and identify the specific mutations in the NBN gene.

It is important for individuals with NBS and their families to receive ongoing clinical support and genetic counseling. There are resources available to learn more about the condition and connect with advocacy groups for NBS. The Nijmegen Breakage Syndrome Center and the Nijmegen Breakage Syndrome Working Group provide additional information and support.

References and additional information about Nijmegen breakage syndrome can be found on scientific databases such as PubMed, OMIM, and the ClinicalTrials.gov website. These resources contain articles, clinical trials, and genetic information on the syndrome.

Other Names for This Condition

  • Nijmegen breakage syndrome
  • NBS
  • Ataxia telangiectasia variant V1
  • AT-V1
  • M ICOSOMIA occurrence 6
  • Microencephaly, cancer predisposition, radiosensitivity, non-Hodgkin lymphoma
  • Seemanova syndrome 1

Nijmegen breakage syndrome, also known as NBS, is a rare genetic disorder that affects the ability of cells to repair DNA breaks. It is associated with an increased risk of developing cancer, particularly non-Hodgkin lymphoma and head and neck cancers. NBS is caused by mutations in the NBN gene, which is involved in DNA repair processes. This condition is thought to prevent the body’s immune system from working properly, leading to frequent infections and immunodeficiency.

People with Nijmegen breakage syndrome often have a distinctive appearance, with features such as a small head size (microcephaly), sloping forehead, and a broad nasal bridge. They may also have long, thin fingers and toes (arachnodactyly) and a high-pitched voice. Additional symptoms may include intellectual disability, developmental delay, and blood disorders such as anemia or low platelet counts.

Testing for Nijmegen breakage syndrome can be done through genetic testing, which can identify mutations in the NBN gene. This testing may be recommended for individuals with a family history of the condition or for those who have symptoms consistent with NBS. It is important to note that not all individuals with Nijmegen breakage syndrome will have a family history of the condition, as the NBN gene can also be affected by new mutations.

There is currently no cure for Nijmegen breakage syndrome, but treatments and supportive care can help manage symptoms and complications. Regular medical check-ups, immunizations, and screenings for cancer are often recommended for individuals with NBS. Genetic counseling and support from advocacy organizations can also provide additional information and resources for patients and their families.

Scientific research and clinical studies are ongoing to learn more about the causes and treatment of Nijmegen breakage syndrome. The Nijmegen Breakage Syndrome Center, located in the Netherlands, is a leading center for research and patient care for this condition. Publications and articles about Nijmegen breakage syndrome can be found in scientific databases such as PubMed and OMIM. Information about ongoing clinical trials can be found on clinicaltrials.gov.

Additional Information Resources

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information about genetic disorders, including Nijmegen breakage syndrome. It includes information about the genetics, clinical features, and inheritance patterns of the syndrome. Visit www.omim.org to learn more.

  • Nijmegen Breakage Syndrome Center: The Nijmegen Breakage Syndrome Center is a research and advocacy center dedicated to raising awareness about this rare condition. Their website provides valuable information for patients, families, and healthcare professionals. Visit www.nijmegenbreakagesyndrome.nl for more information.

  • National Center for Advancing Translational Sciences: The NCATS is an organization that supports and conducts research on rare diseases and conditions. They have additional resources and information on Nijmegen breakage syndrome. Visit rarediseases.info.nih.gov to learn more.

  • Genetic Testing: Genetic testing can help diagnose Nijmegen breakage syndrome. It can also identify specific genetic mutations and provide information about recurrence risks for family planning. Talk to your healthcare provider or genetic counselor to learn more about genetic testing options.

  • Scientific Articles and Studies: Stay up-to-date with the latest scientific research and studies on Nijmegen breakage syndrome. PubMed, a database of scientific articles, is a valuable resource for finding relevant studies and information. Visit pubmed.ncbi.nlm.nih.gov to access the database.

  • Clinical Trials: Keep track of ongoing clinical trials related to Nijmegen breakage syndrome. ClinicalTrials.gov is a registry and database of clinical trials worldwide. Visit www.clinicaltrials.gov to find information on current studies and trials.

  • Support and Advocacy: Connect with support groups and advocacy organizations for Nijmegen breakage syndrome. These resources provide valuable support, information, and resources for patients and their families. Examples include the Cooper Genes Rare Disease Consortium and the Nijmegen Breakage Syndrome Foundation.

See also  Triple A syndrome

Genetic Testing Information

Nijmegen breakage syndrome is a rare genetic condition that prevents cells from repairing DNA breaks. This condition is associated with an increased risk of cancers, particularly non-Hodgkin lymphoma. Genetic testing can provide important information about the genetic mutations that cause this syndrome.

Genetic testing for Nijmegen breakage syndrome can be done at specialized genetic testing centers. These centers work with scientific and clinical research to identify the genes and mutations associated with the syndrome. By testing a patient’s DNA, these centers can determine the presence of genetic mutations that cause the syndrome. This information can help doctors and researchers learn more about the causes, inheritance, and frequency of Nijmegen breakage syndrome.

Genetic testing for Nijmegen breakage syndrome can also provide information about the risk of other conditions, such as immunodeficiency and head and neck cancers. By identifying the specific genetic mutations, doctors can better understand how the syndrome affects the immune system and increases the risk of these diseases.

There are resources available for those seeking genetic testing information about Nijmegen breakage syndrome. The OMIM (Online Mendelian Inheritance in Man) database provides a catalog of genes and related diseases, including Nijmegen breakage syndrome. PubMed is another useful resource for finding scientific articles and studies on the topic. Additionally, clinicaltrials.gov can provide information about ongoing clinical trials and research studies related to Nijmegen breakage syndrome.

Genetic testing can be an important tool for diagnosing Nijmegen breakage syndrome in children and adults with suspected symptoms. It can also provide valuable information for families and healthcare professionals working with individuals affected by the syndrome. Genetic testing can help identify carriers of the syndrome, allowing for preventative measures and support to be provided.

Genetic Testing Resources for Nijmegen Breakage Syndrome:

  • OMIM: The OMIM database provides information about the genes associated with Nijmegen breakage syndrome and related diseases. Visit their website for more information.
  • PubMed: PubMed is a valuable resource for finding scientific articles and studies on Nijmegen breakage syndrome. Search for specific keywords to learn more about the latest research on the topic.
  • ClinicalTrials.gov: Visit this website to learn more about ongoing clinical trials and research studies related to Nijmegen breakage syndrome. This can provide opportunities for participation in research and access to new treatments or interventions.

Genetic testing can provide important information about Nijmegen breakage syndrome, its causes, and associated risks. It is an essential tool for diagnosis and can help guide treatment and support for individuals and families affected by this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases, including Nijmegen breakage syndrome. Nijmegen breakage syndrome is a genetic disorder that is characterized by an increased susceptibility to cancer and immunodeficiency.

The syndrome is associated with mutations in a gene called NBN, which prevents cells from properly repairing DNA breaks. This can lead to the development of different types of cancers, such as non-Hodgkin lymphoma. Additionally, the impaired immune system in individuals with Nijmegen breakage syndrome increases their susceptibility to infections.

GARD provides information on the signs and symptoms of Nijmegen breakage syndrome, its causes, and the frequency of the condition. The resource also offers resources for genetic testing and clinical trials related to the syndrome.

To learn more about Nijmegen breakage syndrome, you can visit the GARD website and access additional references, scientific articles, and patient support resources. GARD also provides links to other sources of information, such as OMIM, PubMed, and clinicaltrialsgov, where you can find more information about the syndrome and ongoing research studies.

GARD is committed to providing accurate and up-to-date information about genetic and rare diseases, including Nijmegen breakage syndrome. The center works closely with advocacy groups, healthcare professionals, and researchers to ensure that the information provided on their website is reliable and accessible to the public.

For more information about Nijmegen breakage syndrome and other genetic and rare diseases, you can visit the GARD website at https://rarediseases.info.nih.gov/.

Patient Support and Advocacy Resources

There are several resources available to provide support and advocacy for patients with Nijmegen breakage syndrome (NBS) and their families. These resources aim to assist individuals in managing their condition and improving their quality of life. Here are some recommended resources:

  • Nijmegen Breakage Syndrome Center: The Nijmegen Breakage Syndrome Center is a specialized center that offers comprehensive care for individuals with NBS. They provide information on the condition, genetic testing, treatment options, and support services. Visit their website for more information on their services and contact details.
  • Nijmegen Breakage Syndrome Foundation: The Nijmegen Breakage Syndrome Foundation is an advocacy organization dedicated to raising awareness about NBS and supporting affected individuals and their families. They provide educational materials, organize support groups and events, and offer a platform for individuals to connect and share their experiences. Visit their website for additional resources and to learn more about their initiatives.
  • National Cancer Institute: The National Cancer Institute is a U.S. government agency that conducts research, provides information on cancer-related topics, and offers support services for cancer patients and their families. They have a wealth of information on NBS-associated cancers, clinical trials, and treatment options. Visit their website for more information on their resources and research programs.
  • Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS). GARD provides a comprehensive collection of information on genetic and rare diseases, including NBS. They offer resources for patients, families, healthcare professionals, and researchers, such as articles, publications, and links to support groups. Visit their website to access their NBS catalog and learn more about available resources.

It’s important for patients and their families to connect with these resources to gain a better understanding of Nijmegen breakage syndrome and access the support and advocacy they need. These organizations can provide valuable information, guidance, and a sense of community for individuals living with this rare genetic condition.

Research Studies from ClinicalTrialsgov

Nijmegen breakage syndrome (NBS) is a rare genetic condition that causes immunodeficiency, radiation sensitivity, and an increased risk of developing cancers, particularly non-Hodgkin lymphoma. It is also known as NBS1, NBS, or simply as Breakage Syndrome.

See also  Carnitine palmitoyltransferase II deficiency

Research studies from ClinicalTrialsgov are investigating different aspects of Nijmegen breakage syndrome to learn more about its causes, clinical manifestations, and potential treatment options. These studies aim to improve the understanding of this rare condition and develop better strategies for diagnosis, management, and prevention.

Some of the ongoing research studies include:

  1. Genetic Testing: Researchers are conducting genetic testing to identify the specific gene mutations associated with Nijmegen breakage syndrome. By analyzing the NBN gene, which is responsible for producing a protein involved in DNA repair, they aim to better understand how these mutations lead to the development of the syndrome.
  2. Cancer Risk Assessment: Studies are being conducted to assess the frequency and types of cancers associated with Nijmegen breakage syndrome. Researchers are investigating the role of radiation exposure, genetic factors, and other contributing agents in the development of cancers, particularly non-Hodgkin lymphoma, in individuals with this syndrome.
  3. Immunodeficiency and Infections: Researchers are studying the impact of Nijmegen breakage syndrome on the immune system and its susceptibility to infections. By understanding the underlying immunologic defects, they aim to develop better treatment strategies to prevent and manage infections in individuals with this syndrome.
  4. Head and Neck Conditions: Studies are being conducted to investigate the prevalence and impact of head and neck conditions in individuals with Nijmegen breakage syndrome. This research aims to improve the diagnosis, treatment, and supportive care for patients with conditions such as head and neck cancers, hearing loss, and facial abnormalities.
  5. Advocacy and Support: Various advocacy groups and support organizations are working together to provide information, resources, and support for individuals and families affected by Nijmegen breakage syndrome. These groups aim to raise awareness, promote research, and improve the quality of life for people living with this condition.

The information from these research studies and clinical trials can be found on ClinicalTrialsgov, a catalog of ongoing and completed clinical studies. Additionally, PubMed has scientific articles and references related to Nijmegen breakage syndrome, providing more in-depth information for healthcare professionals and researchers interested in this rare genetic condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases associated with those genes. Here is a list of key information about Nijmegen breakage syndrome:

  • Gene: The gene associated with Nijmegen breakage syndrome is called NBN (Nibrin).
  • Inheritance: Nijmegen breakage syndrome is inherited in an autosomal recessive manner, which means that both parents must carry a mutation in the NBN gene for a child to be affected.
  • Other Names: Nijmegen breakage syndrome is also known as AT-V1, NBS, and NBS1.
  • Testing: Genetic testing can be done to identify mutations in the NBN gene, which can confirm a diagnosis of Nijmegen breakage syndrome.
  • Clinical Features: Individuals with Nijmegen breakage syndrome may experience immunodeficiency, growth retardation, microcephaly, and a predisposition to develop cancers, particularly non-Hodgkin lymphoma.
  • Treatment: Currently, there is no specific treatment for Nijmegen breakage syndrome. Supportive care and management of associated conditions are the primary approaches.
  • Research and Clinical Trials: Ongoing research and clinical trials aim to better understand the genetic and molecular mechanisms of Nijmegen breakage syndrome and develop potential therapeutic agents.
  • References and Resources: More information about Nijmegen breakage syndrome can be found in scientific articles, clinical studies, and resources provided by organizations such as the Nijmegen Breakage Syndrome Center and clinicaltrials.gov.
  • Breakage Syndrome: Nijmegen breakage syndrome is characterized by increased predisposition to chromosomal breaks and rearrangements due to defects in the DNA repair system.
  • Frequency: Nijmegen breakage syndrome is a rare condition, and its exact frequency in the population is not well-established.
  • Associated Conditions: Besides the increased risk of cancer, individuals with Nijmegen breakage syndrome may also exhibit immunoglobulin deficiency, recurrent infections, and developmental delays.

This catalog provides an overview of the key aspects of Nijmegen breakage syndrome based on information available in the OMIM database. For more detailed and up-to-date information, it is advised to refer to the relevant scientific literature, clinical resources, and genetic testing centers.

Scientific Articles on PubMed

Nijmegen breakage syndrome (NBS) is a rare genetic condition caused by mutations in the NBN gene. People with NBS have a faulty DNA repair system, which prevents the repair of DNA breaks. This condition is also called Nijmegen breakage syndrome type 1.

Children with NBS typically have a range of clinical manifestations, including growth retardation, microcephaly (small head size), immunodeficiency, and increased susceptibility to infections. They also have an increased risk of developing certain types of cancer, such as non-Hodgkin lymphoma.

There have been many scientific articles published on PubMed about Nijmegen breakage syndrome. These articles provide valuable information about the genetic causes of the condition, clinical features, and management strategies. They also discuss the frequency of NBS mutations in different populations and the associated risk of developing cancer.

One study published on PubMed investigated the frequency of NBN gene mutations in a cohort of patients with non-Hodgkin lymphoma. The researchers found that a significant proportion of these patients had mutations in the NBN gene, suggesting a potential link between NBS and non-Hodgkin lymphoma.

Another study explored the role of the NBN gene in preventing DNA breaks caused by radiation. The researchers found that cells from NBS patients were more sensitive to radiation-induced DNA damage compared to cells from healthy individuals. This highlights the importance of proper DNA repair mechanisms in protecting against the harmful effects of radiation.

Many of the scientific articles on PubMed also discuss the inheritance pattern of Nijmegen breakage syndrome. It is inherited in an autosomal recessive manner, meaning that both copies of the NBN gene must be mutated for the condition to manifest. Carriers of a single mutated gene are generally healthy but have an increased risk of passing on the condition to their children.

In addition to research articles, there are also clinical resources available on PubMed for NBS. These include clinical trials investigating potential treatment options and supportive resources for patients and families affected by NBS. The Nijmegen Breakage Syndrome Center at Nijmegen University Medical Center is a valuable source of information and support for people with NBS.

In conclusion, PubMed is a rich source of scientific articles and clinical resources about Nijmegen breakage syndrome. These resources provide insight into the genetic causes, clinical features, and management of this rare condition. Further research and advocacy efforts are needed to improve the understanding and treatment of Nijmegen breakage syndrome.

References

Related Posts