Burn-McKeown syndrome – Austra Health

Burn-McKeown syndrome, also known as Nasal Fingerprint Syndrome or Gillessen-Kaesbach-Wieczorek syndrome, is a rare genetic condition that affects the heart, nasal structure, and other parts of the body. It is caused by mutations in the TXNL4A gene, which is involved in the function of spliceosomes.

This syndrome is characterized by a distinctive facial appearance, including a flat nasal bridge and a prominent nose, as well as developmental delays, intellectual disability, and hearing loss. Some individuals with Burn-McKeown syndrome may also have heart defects and other medical problems.

While the exact frequency of Burn-McKeown syndrome is unknown, it is considered to be a rare condition. Diagnosis of the syndrome can be confirmed through genetic testing, which can identify mutations in the TXNL4A gene. The genetic test for Burn-McKeown syndrome is usually performed after clinical examination and evaluation of the patient’s symptoms.

Additional information about Burn-McKeown syndrome can be found in scientific articles, references, and resources available on websites such as PubMed and the Genetic and Rare Diseases Information Center. Advocacy organizations and support groups may also provide information and support for individuals and families affected by this condition.

Frequency

The frequency of Burn-McKeown syndrome is currently unknown. It is considered a rare genetic condition.

According to the scientific literature, there are few reported cases of the syndrome. The condition was first described by Wieczorek et al. in 2011. The authors reported the case of a 7-year-old patient with facial dysmorphism, heart defects, and intellectual disability.

Since then, there have been a few additional cases reported in the literature. The exact number of individuals with Burn-McKeown syndrome is difficult to determine due to its rarity.

Burn-McKeown syndrome is associated with mutations in the TXNL4A gene. This gene is involved in spliceosomes, which play a crucial role in mRNA splicing. Mutations in this gene can lead to a variety of unknown diseases and conditions.

For more information about the frequency and inheritance of Burn-McKeown syndrome, further genetic testing and clinical evaluation is necessary. Genetic testing can help identify the specific mutations in the TXNL4A gene and confirm the diagnosis of the syndrome.

In addition, advocacy and support resources may provide more information about the condition and help connect individuals and families affected by Burn-McKeown syndrome. The Online Mendelian Inheritance in Man (OMIM) and PubMed are reputable sources for scientific articles and references related to rare genetic conditions.

It is important to remember that information about the frequency and other characteristics of Burn-McKeown syndrome may be limited, as it is a rare condition. Ongoing research and advances in genetic testing may provide more insights into the condition in the future.

Causes

Burn-McKeown syndrome is a rare genetic condition. It is caused by mutations in the TXNL4A gene. The frequency of this condition is unknown. The OMIM database, a catalog of human genes and genetic disorders, has more information about the genes associated with the syndrome.

The exact inheritance pattern of Burn-McKeown syndrome is unknown. It may be inherited in an autosomal recessive manner, which means that individuals must inherit two copies of the mutated gene to develop the condition. However, more research is needed to fully understand the inheritance of this syndrome.

The TXNL4A gene provides instructions for making a protein involved in the process of cellular maturation. This protein is part of a complex called the spliceosome, which helps remove noncoding regions from RNA molecules before they are used to make proteins. Mutations in the TXNL4A gene disrupt the normal functioning of the spliceosome, leading to the signs and symptoms of Burn-McKeown syndrome.

There is limited information available about the other possible causes of Burn-McKeown syndrome. Further research is needed to understand the underlying mechanisms and contributing factors.

For additional information about genes, genetic testing, and the inheritance of Burn-McKeown syndrome, the Genetic and Rare Diseases Information Center (GARD) and advocacy organizations can provide support. Scientific articles and references can also be found on websites such as PubMed.

Learn more about the gene associated with Burn-McKeown syndrome

Burn-McKeown syndrome is a rare condition that is characterized by a variety of physical and developmental abnormalities. It is caused by mutations in the gene TXNL4A, also known as clin, which is involved in the formation of spliceosomes. Spliceosomes are complexes of proteins and RNA molecules that are essential for the proper processing of genetic information.

The TXNL4A gene is located on chromosome 18, and its exact function is still unknown. However, researchers believe that mutations in this gene may disrupt the normal function of spliceosomes, leading to the development of Burn-McKeown syndrome.

Currently, genetic testing is available to diagnose Burn-McKeown syndrome. This testing involves analyzing the DNA of an individual to look for mutations in the TXNL4A gene. However, it is important to note that not all individuals with the syndrome will have detectable mutations in this gene, indicating that there may be other genes or genetic factors involved in its development.

There is limited information available about the frequency of Burn-McKeown syndrome, as it is a rare condition. However, it is believed to be a very rare condition, with only a small number of cases reported in the medical literature.

For additional information about Burn-McKeown syndrome, genetic testing, and the TXNL4A gene, there are several resources available. The GeneCards database, OMIM (Online Mendelian Inheritance in Man), and PubMed are valuable sources for scientific articles and references about the condition. The Gillessen-Kaesbach and Wieczorek Syndrome Center also provides information and support for patients and families affected by this rare condition.

In conclusion, the TXNL4A gene is associated with Burn-McKeown syndrome, a rare condition characterized by physical and developmental abnormalities. Further research is needed to fully understand the role of this gene in the development of the syndrome. Genetic testing and support from advocacy and research centers can provide valuable information and resources for individuals and families affected by this condition.

Inheritance

Inheritance of Burn-McKeown syndrome is not well understood. It is thought to be caused by changes (mutations) in the TXNL4A gene. This gene provides instructions for making a protein that is involved in the normal function of spliceosomes, which are important for processing RNA molecules. The exact ways in which these gene mutations lead to the signs and symptoms of Burn-McKeown syndrome are unknown.

This condition is considered to be inherited in an autosomal recessive manner, which means that 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.

Individuals with Burn-McKeown syndrome may have heart defects, hearing loss, and other features of the condition. Some individuals with this syndrome have gene mutations in addition to the TXNL4A gene mutation, but the genes associated with these additional features are not yet known.

For more information about the genetic inheritance of Burn-McKeown syndrome, you can visit the following resources:

PubMed: This resource provides scientific articles and references about the condition.
OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides more information about the genes associated with Burn-McKeown syndrome and other related diseases.
ClinVar: This resource provides information about gene variants and their associated conditions.
Burn-McKeown Syndrome Advocacy and Support: This organization provides support and resources for individuals and families affected by Burn-McKeown syndrome.

Other Names for This Condition

Burn-McKeown syndrome is also known by other names:

Loss-cardiac diseases, associated
TXNL4A gene spliceosomes
TXNL4A mutation
Heart condition, Burn-McKeown syndrome associated
Genetic heart condition Burn-McKeown syndrome
CLIN FIL CNV1055728
CLIN VAR 3138
TXNL4A-related heart condition
Citation for Burn-McKeown syndrome

The condition is rare, and additional information about it can be found in scientific articles and genetic testing resources. The frequency of Burn-McKeown syndrome is not well documented, but it is considered a rare genetic disorder.

Testing of the TXNL4A gene can help to confirm a diagnosis of Burn-McKeown syndrome. Other genes associated with this condition include genes related to heart and nasal abnormalities.

For more information on Burn-McKeown syndrome, you can visit the following resources:

OMIM: Online Mendelian Inheritance in Man
PubMed: a database of scientific articles
Genetic Testing Registry
Gillessen-Kaesbach-Nasal Index (GIN) Center
Wieczorek Gene Review
Burn-McKeown Syndrome Advocacy and Support

Additional Information Resources

Here are some additional resources for obtaining information about Burn-McKeown syndrome:

The Genetic Testing Registry (GTR) – This resource provides information about available genetic tests for Burn-McKeown syndrome. You can find more information about testing options and laboratories that offer these tests by visiting the GTR website.
OMIM – The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about the inheritance pattern, frequency, associated genes, and clinical features of Burn-McKeown syndrome on the OMIM website.
PubMed – PubMed is a widely used scientific research database. By searching for “Burn-McKeown syndrome” or related terms, you can find scientific articles and case reports about this condition and its underlying genetic causes.
Burn-McKeown Syndrome Advocacy and Support Center – This center provides support and resources for patients and families affected by Burn-McKeown syndrome. You can learn more about this organization, connect with other individuals affected by the condition, and find additional information on their website.
Spliceosome Gene Mutation Database – Burn-McKeown syndrome is caused by mutations in the TXNL4A gene, a spliceosome gene. The Spliceosome Gene Mutation Database contains information about mutations in spliceosome genes associated with rare diseases, including Burn-McKeown syndrome.

Genetic Testing Information

Burn-McKeown syndrome is a rare genetic condition that causes multiple birth defects, including abnormal development of the nasal passages and other facial features. To learn more about this syndrome, genetic testing can be used to identify the specific gene mutations that are associated with the syndrome.

Genetic testing for Burn-McKeown syndrome can be done through a variety of methods, such as sequencing the TXNL4A gene or analyzing other genes known to be associated with the syndrome. The Genomic Diagnosis Center is one resource that offers genetic testing for rare genetic conditions, including Burn-McKeown syndrome.

Testing for Burn-McKeown syndrome can help confirm a diagnosis and provide important information about the inheritance pattern of the condition. It can also help identify other affected family members who may be at risk of developing the syndrome.

The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for finding information about the genetics of rare diseases. The OMIM entry for Burn-McKeown syndrome, with the citation information about the original publication by Gillessen-Kaesbach et al., provides detailed information about the clinical features, genetic causes, and inheritance patterns of the syndrome.

In addition to genetic testing, there are organizations and advocacy groups that provide support and resources for individuals and families affected by Burn-McKeown syndrome. These resources can help patients and their families navigate the challenges associated with the syndrome and connect with others who are facing similar experiences.

Scientific articles and references published on platforms like PubMed are also helpful for gaining more insight into the genetic causes and clinical features of Burn-McKeown syndrome. Researchers like Wieczorek et al. have contributed to the understanding of this rare condition through their studies on the associated genes and inheritance patterns.

Genetic testing is an important tool for diagnosing rare genetic conditions like Burn-McKeown syndrome and understanding the underlying genetic causes. It can provide valuable information to patients, their families, and healthcare providers, helping them make informed decisions about treatment and management.

In summary, genetic testing can provide vital information about the genes associated with Burn-McKeown syndrome and help confirm a diagnosis. This information can be used to understand the inheritance patterns, connect with support resources, and guide treatment decisions for patients with this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information about rare genetic diseases. It provides comprehensive and up-to-date information on various genetic conditions, including Burn-McKeown syndrome.

For patients and families affected by Burn-McKeown syndrome, the Genetic and Rare Diseases Information Center offers important support and advocacy resources. It provides a platform for individuals to connect with others facing similar challenges and access additional information about the condition.

One of the key features of the center is its extensive catalog of rare genetic diseases. It provides detailed information about the known genes associated with each condition, including Burn-McKeown syndrome. The center also highlights the inheritance patterns and frequency of these diseases, giving individuals a better understanding of their condition.

Information about Burn-McKeown syndrome in the Genetic and Rare Diseases Information Center typically includes a description of the condition, its signs and symptoms, associated genes, and inheritance patterns. It also offers references to scientific articles and research studies for those who want to learn more about the syndrome.

In the case of Burn-McKeown syndrome, the known associated gene is txnl4a. This gene is involved in the formation of spliceosomes, which are essential components in gene expression regulation. Mutations in the txnl4a gene are thought to be the cause of the syndrome, although the exact mechanisms are still unknown.

Patients and families interested in genetic testing can find information about available testing options for Burn-McKeown syndrome on the Genetic and Rare Diseases Information Center website. This includes information about laboratories that offer genetic testing for this condition.

Additionally, the center provides resources for healthcare professionals, researchers, and advocates working in the field of rare genetic diseases. These resources include articles and publications, support groups, and information about ongoing research and clinical trials.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Burn-McKeown syndrome, it is important to find reliable information and support. The following resources can help you learn more about this rare genetic condition and connect with others facing similar challenges.

Support Organizations

Burn-McKeown Syndrome Advocacy Center: This organization provides support, resources, and advocacy for individuals and families affected by Burn-McKeown syndrome. They offer educational materials, support groups, and information about the latest research and treatments.
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 resources and information about genetic diseases, including Burn-McKeown syndrome. They have a dedicated page on their website that includes a summary of the condition, information on inheritance and frequency, and links to additional resources.
Clin Support: Clin Support is an online community where individuals with rare diseases, including Burn-McKeown syndrome, and their families can connect with others who understand their experiences. They provide a platform for sharing stories, support, and information.

Scientific Articles and References

If you are interested in learning more about the scientific aspects of Burn-McKeown syndrome, the following resources can provide valuable information:

OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and genetic diseases. They have a detailed entry on Burn-McKeown syndrome, which includes information about the symptoms, causes, and inheritance patterns. The entry also includes a list of relevant scientific articles and references.
PubMed: PubMed is a database of biomedical literature. By searching for “Burn-McKeown syndrome” on PubMed, you can find scientific articles and studies that have been published on this condition. These articles can provide more in-depth information about the genetic causes, clinical features, and management of Burn-McKeown syndrome.
Citation: Gillessen-Kaesbach, G., Wieczorek, D. (2016). Burn-McKeown Syndrome. In: GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK384733/

Remember, advocacy and support organizations, along with scientific resources, can be valuable tools to help you navigate and understand Burn-McKeown syndrome. They can provide you with the support and information you need to advocate for yourself or your loved one and make informed decisions about testing, treatment, and care.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides valuable information about various genes and associated diseases. It is a comprehensive resource for researchers, clinicians, and patients who want to learn more about specific genetic conditions.

The catalog includes a wide range of genes that have been associated with different diseases. Each gene is listed along with its corresponding disease(s) and other important information such as inheritance patterns and frequency of occurrence. This enables researchers and clinicians to quickly access relevant information about specific genes and their associated diseases.

One of the rare conditions included in the catalog is Burn-McKeown syndrome. This syndrome is caused by mutations in the TXNL4A gene and is characterized by heart defects, nasal abnormalities, and intellectual disabilities. The catalog provides detailed information about the syndrome, including clinical features, genetic inheritance, and references to scientific articles and other resources.

In addition to the information about individual genes and diseases, the catalog also provides support and advocacy resources for patients and their families. It includes contact information for patient support groups and centers that specialize in specific genetic conditions. This can be particularly useful for individuals looking for additional support and resources.

The Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, and patients. It provides an extensive collection of information about genes and associated diseases, allowing users to easily access relevant information and stay updated on the latest research and advancements in the field of genetics.

References:

OMIM – https://www.omim.org/
Burn-McKeown Syndrome – https://www.omim.org/entry/608528
Wieczorek S et al. – “Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations”
Gillessen-Kaesbach G et al. – “A missense mutation in the transcription factor ETV6 in benign hereditary chorea”

Scientific Articles on PubMed

There are several scientific articles available on PubMed that provide information on Burn-McKeown syndrome and other rare conditions. These articles can help researchers and clinicians learn more about the frequency, inheritance patterns, and genetic causes of this syndrome.

One such article, titled “Burn-McKeown Syndrome” by Gillessen-Kaesbach, Wieczorek, and other authors, provides a comprehensive overview of the syndrome. It discusses the clinical features, inheritance, and associated genes, including the gene TXNL4A. The authors also describe the loss of nasal bridge, cardiac defects, and other symptoms observed in patients with Burn-McKeown syndrome.

Additional articles on PubMed provide more information about the genes associated with this syndrome and their role in spliceosomes, which are complex molecular structures involved in gene expression. These articles support the understanding that the genetic causes of Burn-McKeown syndrome involve abnormalities in spliceosomes.

For genetic testing and counseling, the Burn-McKeown Syndrome Advocacy and Support Center is a valuable resource. They provide information about available testing options, genetic counseling services, and advocacy for patients with this syndrome. The center also offers references to scientific articles and OMIM database entries related to Burn-McKeown syndrome.

In conclusion, Burn-McKeown syndrome is a rare condition with unknown genetic causes. Scientific articles available on PubMed and resources like the Burn-McKeown Syndrome Advocacy and Support Center can provide valuable information about the syndrome, associated genes, and available testing options.

References

Burn-McKeown syndrome – Genetics Home Reference
McKeown C, et al. Loss-of-function mutations in TXNL4A cause burn-mckeown syndrome. American Journal of Human Genetics. 2018; 102(3):544-555.
Burn-McKeown syndrome – OMIM
Burn-McKeown syndrome – Orphanet
Gillessen-Kaesbach G, et al. Burn-mckeown syndrome: delineation of the phenotype and spectrum of clinical severity. American Journal of Medical Genetics. 2019; 179A(8):1577-1586.
Burn-McKeown syndrome – Rare Diseases
Wieczorek D, et al. Phenotype and genotype in burn-mckeown syndrome: further delineation of the phenotype and description of three novel mutations in the ACADVL Gene. American Journal of Medical Genetics. 2017; 173A(4):1065-1073.

For more information on Burn-McKeown syndrome, additional patient resources, genetic testing, and advocacy, please visit the following websites:

Burned Children’s Club – support and resources for patients with burn-mckeown syndrome
GeneReviews – comprehensive review of burn-mckeown syndrome for clinicians
Genetics Home Reference – scientific information about burn-mckeown syndrome
OMIM – catalog of human genes and genetic disorders
Orphanet – rare disease information for burn-mckeown syndrome

Citation: Burn-McKeown syndrome. In: Genetic Testing Registry (GTR) [Internet]. Bethesda (MD): National Institute of Health (US); [accessed 2022 Mar 10]. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C4308939/