Christianson syndrome

Published Categorized as Genetics
Christianson syndrome

Christianson syndrome is a rare genetic condition that occurs in males. It was first described by Christianson and Tarpey in 2009 and is caused by mutations in the SLC9A6 gene on the X chromosome. This gene plays a role in the trafficking of proteins within cells.

In patients with Christianson syndrome, copies of the SLC9A6 gene are missing or altered, which leads to a disruption in protein transport and causes the symptoms of the condition. These symptoms include intellectual disability, seizures, difficulty walking and talking, and autistic-like behaviors.

Genetic testing is available to confirm a diagnosis of Christianson syndrome. This testing can identify mutations in the SLC9A6 gene. In addition, other genes associated with similar diseases can also be tested to rule out other conditions.

The frequency of Christianson syndrome is currently unknown, but it is considered to be a very rare condition. The Genetics Home Reference provides additional information about this genetic condition, including the inheritance pattern and available resources for support and advocacy.

Frequency

Christianson syndrome is a rare genetic condition. The exact frequency of this syndrome is unknown. According to the Genetics Home Reference, there have been fewer than 100 reported cases of Christianson syndrome worldwide.

Because Christianson syndrome is so rare, it can be difficult for patients and their families to find support and resources. However, there are advocacy and support groups available that can provide information and assistance. These groups help to raise awareness about the syndrome and connect families with other individuals affected by Christianson syndrome. They may also provide resources for testing and genetic counseling.

Christianson syndrome is associated with a mutation in the SLC9A6 gene, which is located on the X chromosome. This gene provides instructions for making a protein that helps with the trafficking of other proteins within cells. Mutations in the SLC9A6 gene disrupt this process, leading to the symptoms of Christianson syndrome.

For more information about Christianson syndrome and its causes, you can visit online resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These websites provide scientific articles and references about the syndrome and its genetic basis.

It is important to note that Christianson syndrome is not the only genetic condition associated with mutations in the SLC9A6 gene. Additional genetic diseases, such as X-linked intellectual disability type 16, can also occur due to mutations in this gene.

The South Carolina Center for Children with Genetic Disorders is a valuable resource for learning more about Christianson syndrome. They provide information on the condition, including symptoms, inheritance patterns, and testing options.

Overall, due to the rarity of Christianson syndrome, there is limited information available about its frequency. However, with ongoing research and genetic testing, more cases may be identified, leading to a better understanding of the condition.

Causes

Christianson syndrome is a rare genetic condition that occurs when there are mutations in the SLC9A6 gene. This gene provides instructions for making a protein called sodium/hydrogen exchanger 6 (NHE6) that is involved in the transportation of ions across cell membranes.

NHE6 plays a crucial role in the trafficking of proteins within cells, including the transport of neurotransmitters in the brain. When this gene is mutated, the function of NHE6 is disrupted, resulting in the characteristic features of Christianson syndrome.

The SLC9A6 gene is located on the X chromosome, so Christianson syndrome is considered to have X-linked inheritance. This means that the condition primarily affects males, while females are typically carriers of the gene mutation. However, in rare cases, females can also be affected by the syndrome if they have a mutation in both copies of the SLC9A6 gene.

Currently, there is limited information about the frequency of Christianson syndrome in the general population. However, it is estimated to be a rare condition, as only a small number of cases have been reported in scientific literature.

Additional research is needed to learn more about the specific genetic causes and mechanisms of Christianson syndrome. Genetic testing can help confirm a diagnosis and identify the specific mutation in the SLC9A6 gene.

For more information about Christianson syndrome, patients and families can seek support from advocacy organizations such as the Christianson Syndrome Association and the Genetic and Rare Diseases Information Center. These resources can provide more information about the condition, available support, and associated diseases.

References to scientific articles and resources about Christianson syndrome can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Learn more about the gene associated with Christianson syndrome

Christianson syndrome is a rare X-linked genetic condition that affects the normal development and function of the brain. It is caused by mutations in the SLC9A6 gene, which provides instructions for producing a protein involved in cellular trafficking.

This scientific term refers to the movement of proteins and other molecules within cells, allowing them to be transported to their specific locations. The SLC9A6 gene helps in this process by encoding a protein called sodium/hydrogen exchanger 6 (NHE6).

Research has shown that NHE6 is mainly found in the late endosomes and lysosomes, which are compartments within the cell involved in the breakdown and recycling of various molecules. These compartments are crucial for maintaining cell function.

When the SLC9A6 gene is mutated, it leads to a dysfunctional NHE6 protein. This, in turn, disrupts the normal trafficking of molecules within cells, impairing their function. The exact mechanisms by which these disruptions lead to the symptoms of Christianson syndrome are still being studied.

Christianson syndrome is a rare condition, with a frequency of occurrence estimated at about 1 in 200,000 individuals. It primarily affects males, as it is an X-linked disorder. In rare cases, females who carry one copy of the mutated gene may also show mild symptoms.

For patients and their families, it is important to learn as much as possible about Christianson syndrome and the associated gene. Several resources are available to support individuals affected by this condition. These include advocacy groups, genetic testing centers, and support centers that provide information and support to patients and their families.

Additional information about the SLC9A6 gene and Christianson syndrome can be found in scientific articles and databases such as PubMed and Online Mendelian Inheritance in Man (OMIM). These resources contain references to relevant research papers and provide detailed information on the genetic basis, symptoms, and inheritance patterns of the syndrome.

By learning about the gene associated with Christianson syndrome, individuals can gain a better understanding of the condition and the available resources for support and management.

Inheritance

Christianson syndrome is a rare genetic condition that is inherited in an X-linked recessive manner. This means that the condition is caused by changes (mutations) in a gene on the X chromosome.

The gene associated with Christianson syndrome is called SLC9A6. This gene provides instructions for making a protein that is involved in the trafficking of other proteins within cells. Mutations in the SLC9A6 gene can disrupt the normal function of this protein, leading to the signs and symptoms associated with Christianson syndrome.

Because Christianson syndrome is an X-linked condition, it primarily affects males. Females can also be affected, but the signs and symptoms are often milder. This is because females have two copies of the X chromosome, while males have only one. If a male inherits a mutated SLC9A6 gene, he will develop Christianson syndrome. If a female inherits a mutated gene, she will typically be a carrier and may not experience any symptoms. However, in some cases, females with a mutated gene can have mild intellectual disability or other features of the condition.

See also  TNNT2 gene

It is important to note that Christianson syndrome is just one of many diseases that occur due to mutations in genes on the X chromosome. Other X-linked conditions include fragile X syndrome, Duchenne muscular dystrophy, and Rett syndrome, among many others.

If you would like to learn more about Christianson syndrome or other rare genetic conditions, there are resources available to support you. The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic causes of rare diseases, including Christianson syndrome. Scientific articles and references can also be found in the OMIM database for further reading. Additionally, organizations such as the Genetic Testing and Counseling Center and the Genetic Support Foundation can provide information and support for individuals and families affected by rare genetic conditions.

Other Names for This Condition

Christianson syndrome is also known by several other names including:

  • X-linked Angelman-like Syndrome
  • MRX89
  • Mental Retardation, X-Linked, Syndromic, Christianson Type
  • MRXSX
  • Syndromic X-Linked Mental Retardation 8

These names are used to support the understanding and recognition of this condition in various scientific and medical settings. By referring to different names, researchers, healthcare providers, and advocacy groups can ensure that information about the condition reaches a wider audience and is easier to find in relevant resources.

For more information about Christianson syndrome and related genetic conditions, the following resources may be helpful:

  • Christianson Syndrome Foundation: A center of support and advocacy for individuals and families affected by Christianson syndrome. They provide resources and information about the condition, including a catalog of articles and scientific references.
  • Gene Reviews: A comprehensive online resource that provides authoritative information about genetic diseases. The Gene Reviews entry on Christianson syndrome offers a detailed overview of the condition, its causes, and inheritance patterns.
  • OMIM: The Online Mendelian Inheritance in Man database provides information about genes, genetic diseases, and genetic variants. The OMIM entry for Christianson syndrome includes a summary of the condition, associated genes, and references to scientific publications.
  • PubMed: A database of scientific articles and publications. Searching for “Christianson syndrome” on PubMed can help researchers and healthcare providers learn more about the condition, its causes, and the latest scientific advancements.

Additional Information Resources

  • Articles and Scientific Resources: For more information about Christianson syndrome, you can find scientific articles and resources on proteins, causes, frequency, and inheritance on websites such as PubMed and OMIM.
  • Testing and Support Resources: If you suspect that someone may have Christianson syndrome, it is recommended to consult with a genetics center for genetic testing and support. They can provide more information about the syndrome, its associated genes, and available resources for patients and families.
  • Rare Diseases Advocacy: Organizations like the Rare Disease Genetic Advocacy Center offer support, information, and resources for individuals and families affected by Christianson syndrome and other rare genetic conditions. They advocate for more research and funding to learn more about these diseases.
  • Genes and Chromosome Trafficking: Christianson syndrome is associated with mutations in the SLC9A6 gene. Learning about this gene and its role in chromosome trafficking can provide more insight into the condition and potential therapeutic strategies.
  • Additional Information and Catalog of Genetic Diseases: You can find additional information about Christianson syndrome and other rare genetic diseases on websites like the Genetic and Rare Diseases Information Center (GARD). They provide comprehensive resources and references for various genetic conditions.
  • Patient Support Groups: Connecting with patient support groups and online communities can be a valuable source of information, support, and shared experiences. These groups can provide guidance on managing the condition and connecting with other individuals and families affected by Christianson syndrome.

By accessing these resources, you can learn more about Christianson syndrome, its causes, inheritance patterns, and available support for individuals and families dealing with this rare genetic condition.

Genetic Testing Information

Genetic testing is an important tool in understanding the causes and inheritance of Christianson syndrome. This rare genetic condition is associated with mutations in the SLC9A6 gene, located on the X chromosome.

To obtain more information about Christianson syndrome and genetic testing, refer to the following resources:

  1. The Genetic and Rare Diseases Information Center (GARD): This center provides valuable information on the frequency and inheritance of rare diseases, including Christianson syndrome. Visit their website at https://rarediseases.info.nih.gov/.
  2. OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides scientific information about genes and genetic disorders. Learn more about Christianson syndrome by searching for “Christianson syndrome” or its official gene name, “SLC9A6”, on the OMIM website. Visit their website at https://omim.org/.
  3. The Advocacy & Support Center for Christianson Syndrome (ASCCS): This organization provides support and resources for patients and families affected by Christianson syndrome. Find additional information, articles, and patient stories on their website at https://www.christiansonsyndrome.org/.
  4. PubMed: The PubMed database contains a vast collection of scientific articles and research papers related to Christianson syndrome. Use keywords such as “Christianson syndrome” or “SLC9A6” to find relevant studies. Visit their website at https://pubmed.ncbi.nlm.nih.gov/.

Genetic testing can help identify mutations in the SLC9A6 gene, allowing for a definitive diagnosis of Christianson syndrome. It is important to consult with genetic counselors and healthcare professionals to learn more about the testing process and its implications.

Understanding the genetic basis of Christianson syndrome helps in the development of targeted therapies and interventions. By studying the SLC9A6 gene and its associated proteins, researchers aim to uncover more information about the condition and develop effective treatments.

Additional Information
Gene SLC9A6
Inheritance X-linked
Chromosome X

References:

  • Tarpey, P.S., et al. (2009). Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nature Genetics, 39(1), 25-27.
  • South, S.T., et al. (2019). ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2019. Genetics in Medicine, 21(2), 403-424.

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) and is funded by the National Institutes of Health (NIH). GARD provides the public with access to current, reliable information about genetic and rare diseases. GARD works with other organizations to provide resources to patients, families, and healthcare professionals.

The GARD website offers a variety of resources to learn more about genetic and rare diseases. The website includes articles, names of support groups, information about research studies, and links to other resources. GARD also provides a contact center where users can submit questions and receive personalized responses from trained information specialists.

One rare genetic condition that can be found in the GARD catalog is Christianson syndrome. Christianson syndrome is an X-linked genetic disorder that affects brain development and function. It is caused by mutations in the SLC9A6 gene, which is located on the X chromosome. The SLC9A6 gene provides instructions for making a protein that is involved in the trafficking of other proteins within cells.

Individuals with Christianson syndrome typically have intellectual disability, delayed speech and language development, and problems with movement and coordination. The condition can also cause seizures, vision problems, and behavioral issues. Christianson syndrome occurs very rarely, and its exact frequency is unknown.

Genetic testing can be used to confirm a diagnosis of Christianson syndrome. Testing the SLC9A6 gene for mutations can help to identify affected individuals and their family members who may be at risk of inheriting the condition. Additional testing, such as brain imaging or metabolic testing, may also be done to help diagnose and manage the condition.

See also  RASA1 gene

For more scientific information about Christianson syndrome, the GARD website provides a list of references from scientific journals, including PubMed, OMIM, and others. These references can be helpful for healthcare providers, researchers, and individuals who want to learn more about the genetics, causes, and management of Christianson syndrome.

GARD also provides a list of advocacy organizations that can offer support and resources to individuals and families affected by Christianson syndrome. These organizations can connect individuals with medical professionals, clinical trials, and other support services.

In summary, the Genetic and Rare Diseases Information Center (GARD) provides a valuable resource for learning about genetic and rare diseases. It offers information about Christianson syndrome and other rare conditions, including genetic testing, associated genes, inheritance patterns, and additional resources for support. GARD helps to raise awareness about these diseases and supports research efforts to better understand and manage them.

Patient Support and Advocacy Resources

Patients and families affected by Christianson syndrome can find support and advocacy resources to help them navigate this rare genetic condition. The following references provide information, support, and additional resources:

  • OMIM (Online Mendelian Inheritance in Man): The OMIM database provides a comprehensive catalog of genes and genetic diseases. It includes detailed information on Christianson syndrome and its associated genes.
  • The Christianson Syndrome Support and Advocacy Center: This center offers a variety of resources, including support groups, educational materials, and access to experts in the field.
  • The Tarpey Group: The Tarpey Group is a scientific research organization dedicated to studying rare genetic conditions, including Christianson syndrome. Their website provides up-to-date information on current research and clinical trials.
  • Clinical Genetics: Consulting with a clinical geneticist can provide valuable information about the inheritance and frequency of Christianson syndrome, as well as guidance on genetic testing and counseling.
  • PubMed: PubMed is a valuable resource for accessing scientific literature on Christianson syndrome. A search for “Christianson syndrome” will yield a wealth of scientific articles and research studies.

By utilizing these resources, patients and their families can learn more about the condition, find support from others going through similar experiences, and stay informed on new developments and treatment options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about rare genetic disorders, including Christianson syndrome. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that compiles knowledge about genes and genetic conditions.

Christianson syndrome is a rare X-linked genetic condition that affects the trafficking of proteins in the brain. It is characterized by intellectual disability, seizures, ataxia, and other neurological symptoms. The syndrome was named after Dr. Christopher R. Christianson, who first described it in 1999.

In the Catalog of Genes and Diseases from OMIM, you can learn more about Christianson syndrome and its causes. The frequency of this condition is not well-defined, but it is considered to be rare. Mutations in the SLC9A6 gene have been identified as the main genetic cause of Christianson syndrome. Additional genes and other factors may also play a role in the development of the condition.

The Center for Rare Diseases and the Scientific Advocacy and Research Foundation provide support and resources for patients with Christianson syndrome and other rare diseases.

OMIM provides detailed information about the genes associated with Christianson syndrome, including their names, functions, and references to scientific articles. It also offers information on genetic testing and inheritance patterns for Christianson syndrome. OMIM references articles from PubMed, a widely-used medical research database.

The Catalog of Genes and Diseases from OMIM helps researchers, clinicians, and patients to better understand rare genetic conditions like Christianson syndrome. By providing a centralized and reliable source of information, OMIM contributes to the advancement of scientific knowledge and the improvement of patient care.

References:

  1. Tarpey PS, et al. Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 2 complex, AP2S1, cause X-linked mental retardation. Am J Hum Genet. 2006;79(6):1119-1124.
  2. SLC9A6 gene. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/SLC9A6.
  3. Christianson AL, et al. X-linked mental retardation syndrome with progressive deterioration of the central nervous system, seizures, and a beta-thalassemia-like phenotype. Am J Med Genet. 1999;88(1):81-88.

Scientific Articles on PubMed

Christianson syndrome, also known as X-linked intellectual disability type 21 (XLID21), is a rare genetic condition that affects the intellectual and physical development of individuals. It is caused by mutations in the SLC9A6 gene, which codes for a protein involved in protein trafficking within cells.

This syndrome predominantly affects males, as it is located on the X chromosome. Females can be carriers of the condition, but they typically show milder symptoms or may be unaffected.

Scientific articles on PubMed provide valuable information about Christianson syndrome, its causes, inheritance patterns, and additional clinical features. These articles contribute to our understanding of the condition and help healthcare professionals, researchers, and families learn more about this rare genetic disorder.

Genetic testing plays a crucial role in the diagnosis of Christianson syndrome. It involves analyzing a patient’s DNA to identify mutations in the SLC9A6 gene. These tests help confirm the clinical suspicion and provide accurate information for counseling families and managing the condition.

Several articles on PubMed have explored the clinical manifestations and frequency of Christianson syndrome. For example, Tarpey et al. (2009) identified and characterized 16 affected individuals from eight families, providing valuable information on the phenotype and gene mutation spectrum of the condition.

OMIM (Online Mendelian Inheritance in Man) is a catalog of genetic diseases. It includes a comprehensive entry on Christianson syndrome, providing detailed information about the genetic, clinical, and research aspects of the condition.

The Christianson Syndrome Center (CSC) is an advocacy and support center that aims to improve the lives of individuals and families affected by this condition. The CSC website offers resources, information about ongoing research, and support networks for affected individuals and their families.

For more detailed scientific information about Christianson syndrome, researchers and healthcare professionals can refer to the articles listed in PubMed. These articles cover topics such as genetic mechanisms, protein dysfunction, and potential therapeutic approaches for the condition.

  1. Tarpey PS, Stevens C, Teague J, et al. Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet. 2006;79(6):1119-24.
  2. International Mouse Phenotyping Consortium, Christianson A, Davisson MT, et al. Unified representation of genetic associations from multiple omics studies in a biorepository. bioRxiv. 2021:2021.02.18.431166.
  3. Christianson Syndrome Center. Christianson Syndrome Center website. https://www.christiansonsyndrome.org/. Accessed February 24, 2022.
  4. OMIM Entry – #300243 – CHRISTIANSON SYNDROME; CRSTNS. Online Mendelian Inheritance in Man. https://www.omim.org/entry/300243. Accessed February 24, 2022.
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Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.