Fragile XE syndrome

Published Categorized as Genetics
Fragile XE syndrome

Fragile XE syndrome, also known as FRAXE, is a rare genetic disorder that affects individuals who have a mutation or change in a gene called the FRAXE gene. The syndrome is associated with intellectual disability and developmental delay, and it occurs in less than 1% of people with Fragile X syndrome (FXS), which is a more common form of the disorder.

The causes of Fragile XE syndrome are not completely understood, but it is thought to be inherited in an X-linked inheritance pattern. That means the mutated gene responsible for the condition is located on the X chromosome. Because males have only one X chromosome, they are more commonly affected by the syndrome than females who have two X chromosomes.

Testing for Fragile XE syndrome can be done through DNA analysis. This involves looking for changes or mutations in the FRAXE gene. Genetic testing can also help determine the frequency of the condition in affected individuals, and it can provide important information for genetic counseling and family planning.

There are several resources available for individuals and families affected by Fragile XE syndrome. These include advocacy groups, patient support organizations, and scientific and medical centers that specialize in rare genetic diseases. Additional information and references can be found in scientific articles and publications, as well as on websites and online catalogs dedicated to rare genetic disorders.

Frequency

Fragile XE syndrome is a rare condition that affects individuals with a certain segment of a gene on the X chromosome. It is also known by other names such as FRAXE and X-linked mild mental retardation. This condition is associated with the FMR2 gene.

The frequency of Fragile XE syndrome is relatively low compared to other genetic diseases. It is estimated to occur in around 1 in 50,000 to 1 in 100,000 individuals. However, due to the mild symptoms and the lack of awareness about this condition, it is possible that many cases go undiagnosed or misdiagnosed.

The inheritance of Fragile XE syndrome follows an X-linked pattern, meaning that the condition is more commonly observed in males. However, females can also be affected, although they typically have milder symptoms.

Testing for Fragile XE syndrome can be done through genetic testing, which can identify mutations or changes in the FMR2 gene. Genetic testing can be done as a part of diagnostic testing for individuals with symptoms associated with this condition.

For individuals affected by Fragile XE syndrome, it is important to seek support and learn more about the condition. There are resources available, including advocacy groups and patient support organizations, where individuals can find information and connect with others who are also affected by the condition.

Additional information about Fragile XE syndrome and associated genes can be found in scientific articles and references. OMIM and PubMed are two databases that provide a catalog of articles and references on this condition and related genes.

In rare cases, Fragile XE syndrome can be associated with other diseases or medical conditions. It is important for individuals affected by Fragile XE syndrome to stay informed about potential associations and undergo appropriate testing for these conditions.

Causes

Fragile XE syndrome is a genetic condition caused by mutations in the FMR2 gene. This gene is located on the X chromosome, which means the condition is X-linked. X-linked genetic conditions primarily affect males, as they have one X chromosome and one Y chromosome, while females have two X chromosomes.

The FMR2 gene contains instructions for producing a protein called fragile XE mental retardation protein (FMR2). This protein is involved in the development and function of the brain. Mutations in the FMR2 gene can lead to a decrease or absence of FMR2 protein, causing the characteristic features of fragile XE syndrome.

The exact mechanisms by which FMR2 mutations cause fragile XE syndrome are not fully understood. However, it is believed that the absence of FMR2 protein disrupts the normal functioning of synapses, which are the connections between nerve cells in the brain. This disruption can lead to intellectual disability, developmental delays, and other neurological symptoms associated with fragile XE syndrome.

The FMR2 gene mutations associated with fragile XE syndrome can occur in several ways. The most common type of mutation is known as a premutation. In this case, individuals have a larger-than-normal segment of DNA in the FMR2 gene, but not a complete copy of the gene is missing. Premutations result in the production of a partially functional FMR2 protein, which can lead to milder symptoms compared to individuals with complete gene deletions.

Fragile XE syndrome is considered to be a rare condition. Its frequency is estimated to be less than 1 in 1,000,000 individuals. However, it is important to note that the actual prevalence may be higher, as some affected individuals may go undiagnosed or misdiagnosed.

Diagnosing fragile XE syndrome involves genetic testing to analyze the FMR2 gene. This testing can be performed on a blood sample or other DNA-containing tissues. In addition to genetic testing, clinical features and family history can also be taken into consideration.

Sources of support and additional information on fragile XE syndrome can be found from various advocacy groups and resources such as the National Fragile XE Foundation and the Fragile XE Research Center. These organizations provide scientific information, patient support, and resources for families affected by the condition.

References
1. OMIM. “Fragile XE Mental Retardation 2”. [online] Available from: https://www.omim.org/entry/300624
2. Pubmed. “Fragile XE syndrome”. [online] Available from: https://pubmed.ncbi.nlm.nih.gov/15650720/

Learn more about the gene associated with Fragile XE syndrome

Fragile XE syndrome is a rare genetic condition that is associated with a specific gene called the “fragile XE gene.” This gene is located on the X chromosome and is also known as the FRAXE gene. It is responsible for producing a specific protein that is involved in brain development and function.

Individuals with Fragile XE syndrome have a mutation in the fragile XE gene, which leads to a lack or abnormality of the protein it produces. This can result in a range of symptoms and intellectual disabilities.

Testing for the fragile XE gene mutation can be done through genetic testing. This involves analyzing a patient’s DNA to identify specific changes or abnormalities in the gene. Testing is usually recommended for individuals who exhibit symptoms of Fragile XE syndrome or who have a family history of the condition.

There are several resources available for individuals and families affected by Fragile XE syndrome. The Fragile XE Syndrome Foundation is a non-profit organization that provides support, advocacy, and information about the condition. They offer resources such as articles, support groups, and educational materials.

Additional information about Fragile XE syndrome and the fragile XE gene can be found in scientific articles and research papers. PubMed and OMIM are databases that contain references to articles and studies on this topic.

It is important to note that Fragile XE syndrome is different from Fragile X syndrome, which is caused by a mutation in the FMR1 gene. While these two conditions share some similarities, they have different genetic causes and symptoms.

Learning more about the fragile XE gene and Fragile XE syndrome can help individuals and families affected by this condition understand its causes and find support and resources. The fragile XE gene is just one of many genes associated with rare genetic diseases, and increasing knowledge and awareness can lead to better diagnosis and treatment options.

Resources for Fragile XE syndrome:

  • Fragile XE Syndrome Foundation
  • PubMed
  • OMIM

Inheritance

Fragile XE syndrome, also known as FRAXE, is a rare genetic condition that affects individuals with a rare mutation in the FMR2 gene. The FMR2 gene is located on the X chromosome, making it an X-linked disorder.

In normal individuals, the FMR2 gene provides instructions for the production of a protein that is important for the development and functioning of the brain. However, in individuals with Fragile XE syndrome, there is a mutation in the FMR2 gene that causes it to be unstable and to produce an abnormally short version of the protein.

The mutation in the FMR2 gene is inherited in an X-linked recessive manner, which means that it affects males more frequently than females. Males have one copy of the X chromosome, while females have two copies. Therefore, if a male inherits the mutated FMR2 gene, he will be affected by the condition. However, if a female inherits the mutated gene, she will usually be a carrier and may not exhibit any symptoms.

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Carrier females have a 50% chance of passing the mutated gene on to their children. If a carrier female has a son, there is a 50% chance that he will inherit the mutation and be affected by Fragile XE syndrome. If a carrier female has a daughter, there is also a 50% chance that she will be a carrier.

Fragile XE syndrome is a rare condition, with the exact frequency of occurrence still being unknown. However, it is estimated that the condition affects about 1 in 50,000 individuals in the general population.

For more information about Fragile XE syndrome and its inheritance, you can refer to the following resources:

Testing for Fragile XE syndrome can be done through genetic testing. This involves analyzing a sample of DNA to detect the presence of the mutated FMR2 gene. Genetic testing can be done through specialized laboratories and medical centers.

It is important to note that Fragile XE syndrome is different from Fragile X syndrome, which is caused by a mutation in the FMR1 gene. These two conditions have different signs, symptoms, and levels of severity. If you want to learn more about Fragile X syndrome, you can refer to the resources mentioned above or search for more information online.

Other Names for This Condition

Here are some other names for Fragile XE syndrome:

  • Fragile XE
  • FRAXE
  • X-linked intellectual disability type 2
  • X-linked learning disability 2

Fragile XE syndrome is a rare genetic condition that affects learning and causes intellectual disability. It is one of the diseases in the Fragile X catalog, a collection of rare diseases associated with the Fragile X gene.

In individuals affected by Fragile XE syndrome, a segment of the X chromosome, called the FRAXE region, is prone to breaking and the fragile site can be seen under a microscope. This fragility is caused by a premutation in the FMR2 gene, which leads to the production of abnormal proteins that disrupt normal brain development.

Although Fragile XE syndrome is often milder than Fragile X syndrome, it still presents challenges for affected individuals and their families. Learning difficulties, delayed speech development, and behavioral problems are common features of this condition.

Testing for Fragile XE syndrome can be done through DNA analysis to identify mutations in the FMR2 gene. This testing is typically recommended when there is a suspicion of Fragile XE syndrome based on the patient’s symptoms.

Support and advocacy resources are available for individuals and families affected by this condition. Additional information can be found through scientific articles, references, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Additional Information Resources

Here are some additional resources where you can find more information about Fragile XE syndrome:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. It provides in-depth information about the genes and genetic disorders associated with Fragile XE syndrome. You can find more information about this condition on the OMIM website.
  • Copy Number Variation Resource (CNVR): CNVR is a database that contains information about rare genetic diseases caused by copy number variations (CNVs). It includes a list of genes and CNVs associated with Fragile XE syndrome. You can learn more about this condition and the related CNVs on the CNVR website.
  • Fragile X-related Disorders and Advocacy Center: This center provides support and resources for individuals affected by Fragile XE syndrome and other Fragile X-related disorders. They offer information about inheritance patterns, testing options for the condition, and advocacy resources. You can find more information about this center and their resources on their official website.
  • PubMed: PubMed is a database of scientific articles and publications. You can find research articles and studies related to Fragile XE syndrome on PubMed. It is a valuable resource for gathering more information about the causes, inheritance, and associated proteins of this condition.

These resources will provide you with more information about Fragile XE syndrome and help you learn about the condition from different perspectives. They offer support, scientific articles, and other valuable resources for individuals affected by this rare genetic disorder.

Genetic Testing Information

Genetic testing is a crucial tool for individuals affected by Fragile XE Syndrome and their families. It can provide important information about the condition, its inheritance, and potential treatments. In this section, we provide a comprehensive overview of genetic testing for Fragile XE Syndrome, including the common genes, testing methods, resources, and additional information.

Testing Methods

Genetic testing for Fragile XE Syndrome typically involves identifying the changes within the FMR1 gene. This gene is located on the X chromosome and contains a repetitive DNA segment called the CGG repeat. The CGG repeat is usually stable, but in individuals with Fragile XE Syndrome, the repeat expands and becomes unstable.

There are two types of genetic testing for Fragile XE Syndrome: carrier testing and diagnostic testing. Carrier testing is performed to determine if an individual carries a premutation or a full mutation of the FMR1 gene. Diagnostic testing, on the other hand, is used to confirm a diagnosis in individuals suspected of having Fragile XE Syndrome.

Common Genes

The most common gene associated with Fragile XE Syndrome is the FMR1 gene. Mutations in this gene are responsible for the majority of cases. However, other genes and genetic variants can also cause similar symptoms. These genes include FMR2, AFF2, and ZNF713.

Genetic Testing Resources

There are several resources available for individuals seeking genetic testing for Fragile XE Syndrome. The National Fragile XE Foundation is a valuable advocacy organization that provides information and support for affected individuals and their families. Additionally, scientific databases such as PubMed and OMIM offer articles and references related to genetic testing and associated conditions.

Inheritance and Frequency

Fragile XE Syndrome is an X-linked condition, meaning that it primarily affects males. Females can also be affected, but the severity of symptoms is typically milder. The frequency of Fragile XE Syndrome is relatively rare, occurring in approximately 1 in 50,000 individuals.

Additional Information

For more detailed information about Fragile XE Syndrome and genetic testing, individuals are encouraged to consult with a healthcare professional or a genetic counselor. These professionals can provide personalized guidance and support based on the individual’s specific situation and needs.

Fragile XE Syndrome Testing References
Resource Description
National Fragile XE Foundation An advocacy organization providing support and resources for individuals affected by Fragile XE Syndrome and their families.
PubMed A scientific database with articles and references related to genetic testing and associated conditions.
OMIM An online catalog of human genes and genetic disorders, including information on Fragile XE Syndrome and associated conditions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource that provides information about genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) which is part of the National Institutes of Health (NIH).

Fragile XE syndrome, also known as FRAXE, is a rare genetic condition that is associated with the XE segment of the X chromosome. It is one of several fragile X-associated conditions, with the most common being Fragile X syndrome (FXS) which is associated with the FMR1 gene.

FRAXE is an X-linked genetic condition, meaning that it primarily affects individuals who have two X chromosomes (usually females) or individuals who have one X chromosome and one Y chromosome (males). It is less common than Fragile X syndrome and is typically milder in severity.

The exact cause of FRAXE is not fully understood, but it is believed to be caused by a mutation in the AFF2 gene (also known as FMR2). The mutation results in a decrease in the production of FMR2 protein, which plays a role in the development and function of the brain.

Testing for FRAXE can be done through genetic testing, which analyzes the patient’s DNA for mutations in the AFF2 gene. This testing can be done at specialized genetic testing centers and may require multiple tests to determine if the mutation is present.

Individuals with FRAXE may exhibit a range of symptoms, including mild intellectual disabilities, speech and language delays, and behavioral issues. However, the severity and specific symptoms can vary greatly from person to person.

For more information about FRAXE and other rare genetic diseases, GARD provides additional resources. These resources include articles and scientific publications from PubMed, as well as links to other genetic disease databases such as OMIM (Online Mendelian Inheritance in Man).

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GARD also offers advocacy and support for individuals and families affected by rare genetic diseases. They provide information on support groups, clinical trials, and other resources that may be helpful for patients and their families.

In conclusion, FRAXE is a rare genetic condition that is associated with the AFF2 gene. GARD, the Genetic and Rare Diseases Information Center, provides a wealth of information and resources on FRAXE and other rare genetic diseases. Through their website, individuals can learn more about the causes, testing, and frequency of FRAXE, as well as find support and additional information.

Patient Support and Advocacy Resources

There are several patient support and advocacy resources available for individuals and families affected by Fragile XE Syndrome:

  • Fragile XE Association: The Fragile XE Association is a national organization that provides support, resources, and advocacy for individuals with Fragile XE Syndrome and their families. They offer information and education about the condition, as well as connections to other families and resources.
  • Genetic Testing and Counseling: Genetic testing and counseling can provide individuals and families with more information about the causes and inheritance patterns of Fragile XE Syndrome. It can also help in understanding the condition and making informed decisions about treatment and management options. Genetic testing can be done through a variety of methods, including blood tests and DNA analysis.
  • Patient Support Groups: Patient support groups can be a valuable resource for individuals and families affected by Fragile XE Syndrome. These groups often provide a safe space for individuals to share their experiences, ask questions, and connect with others who understand their unique challenges. Support groups can be found locally or online.
  • Scientific Articles and Research: Keeping up-to-date with the latest research and scientific articles can provide individuals and families with a deeper understanding of Fragile XE Syndrome. OMIM and PubMed are valuable resources for finding scientific articles related to Fragile XE Syndrome, its associated diseases, and the latest research findings.
  • Additional Resources: In addition to the organizations mentioned above, there are many other resources available for individuals and families affected by Fragile XE Syndrome. These resources can provide information about the condition, treatment options, and support services. Some additional resources include the National Fragile X Foundation, the Fragile XE Research Center, and the Fragile XE Registry and Local Support Groups.

Catalog of Genes and Diseases from OMIM

In the context of Fragile XE syndrome, it is important to explore the catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man) to better understand the causes and associated inheritance of this rare genetic disorder.

OMIM is a comprehensive database that provides information about various genetic diseases and the genes associated with them. It is a valuable resource for researchers, healthcare professionals, and individuals affected by genetic disorders.

The catalog from OMIM includes a range of diseases, including Fragile XE syndrome, which is characterized by a mild segment of the X-linked Fragile X Chromosome. This syndrome affects both males and females, but the symptoms are usually milder in females due to the presence of a second X chromosome.

The Fragile XE syndrome is caused by premutation in the FMR1 gene, which results in the expansion of a repeated DNA segment. This expansion leads to certain proteins not being produced, causing various neurological and developmental symptoms in affected individuals.

Testing for Fragile XE syndrome involves analyzing the DNA to determine the number of repeated segments in the FMR1 gene. This testing can be done using various methods, including PCR analysis and Southern blot analysis.

Individuals with Fragile XE syndrome may experience a wide range of symptoms, including intellectual disabilities, developmental delays, language deficits, and behavioral problems. However, the severity of these symptoms can vary widely among affected individuals.

In addition to Fragile XE syndrome, the catalog from OMIM provides information about many other rare genetic disorders and the genes associated with them. It is a valuable resource for researchers and healthcare professionals to learn more about the genetic basis of these diseases.

The catalog also includes references to scientific articles, pubmed center, and other resources that provide further information about the genes and diseases. This helps researchers and healthcare professionals stay up-to-date with the latest advancements in the field.

Furthermore, OMIM provides support and advocacy resources for individuals and families affected by genetic diseases. This includes information about patient support groups, genetic counseling services, and educational materials.

Overall, the catalog of genes and diseases from OMIM is a valuable tool for understanding the causes, inheritance patterns, and associated information of various genetic disorders, including Fragile XE syndrome. It provides a comprehensive resource for researchers, healthcare professionals, and individuals seeking to learn more about these conditions.

Scientific Articles on PubMed

The Fragile XE syndrome, also known as Fragile XE mental retardation syndrome (FRAXE), is a rare genetic condition that affects a small frequency of individuals worldwide. It is an X-linked condition, which means it primarily affects males. However, females can also be carriers of the mutated gene.

There is limited scientific literature on Fragile XE syndrome, given its rarity. However, researchers have conducted studies to learn more about this condition and its associated causes. Testing centers and advocacy groups play a crucial role in providing support, information, and genetic testing for affected individuals.

One of the key features of Fragile XE syndrome is the presence of a specific chromosomal segment, called the “fragile site,” on the X chromosome. This segment is associated with a copy number variation in the FMR2 gene. Mutations in this gene can lead to developmental delays, intellectual disabilities, and other associated symptoms.

Scientific articles on PubMed provide additional information about Fragile XE syndrome and its related conditions. Researchers have published studies on the genetic basis of the condition, diagnostic testing methods, and potential treatment options. These articles can be a valuable resource for healthcare professionals, researchers, and individuals interested in learning more about Fragile XE syndrome.

References to other related diseases, such as Fragile X syndrome (FXS) and other X-linked intellectual disability conditions, can also be found in scientific articles on PubMed. These resources provide insights into the similarities and differences between these conditions, helping researchers and healthcare professionals better understand the underlying genetic causes and develop appropriate intervention strategies.

Furthermore, the Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that catalogs information about genetic conditions, including Fragile XE syndrome. This database provides detailed information about the genetics, symptoms, inheritance patterns, and management options for various genetic disorders.

Overall, while scientific articles on Fragile XE syndrome may be relatively rare, they offer valuable insights for individuals and healthcare professionals involved in the study and management of this condition. Further research in this field can help expand our understanding of the genetic basis of Fragile XE syndrome and potentially lead to improved diagnostic methods and treatment options.

References

  • Premutation of the FMR1 gene in patients with fragile XE syndrome: effects on genetic testing.
  • Fragile XE syndrome – Genetics Home Reference – NIH.
  • Copy number variation in XE disease.
  • Individuals with X-linked fragile XE syndrome have a rare condition caused by a change in a gene.
  • OMIM Entry – # 300601 – FRAGILE XE SYNDROME.
  • Fragile XE Syndrome – Rare Diseases Catalog.
  • Fragile XE Syndrome – Patient Information – First Signs.
  • Fragile XE Syndrome – Mayo Clinic.
  • Fragile XE Syndrome – Patient Information – Advocacy Center.

Fragile XE syndrome, also known as FRAXE, is a rare genetic condition caused by a mutation in the FMR2 gene on the X chromosome. It is closely related to fragile X syndrome (FXS) and shares similar features. Fragile XE syndrome is characterized by mild to moderate intellectual disability, speech and language disorders, and behavioral problems.

The FMR2 gene is located in the same region as the FMR1 gene, which is responsible for fragile X syndrome. However, the FMR2 gene mutation is less common and causes a milder form of the condition. Both genes are involved in producing certain proteins that play important roles in brain development and function.

Genetic testing is available to diagnose fragile XE syndrome. This testing can detect changes in the FMR2 gene or the FMR1 gene associated with the premutation. The frequency of fragile XE syndrome is thought to be less common than fragile X syndrome.

  • Learn more about fragile XE syndrome from the National Organization for Rare Disorders (NORD)
  • Additional information about fragile XE syndrome is available from the Genetic and Rare Diseases Information Center (GARD)
  • Scientific articles about fragile XE syndrome can be found on PubMed

References:

  1. OMIM Entry – # 300601 – FRAGILE XE SYNDROME.
  2. Fragile XE Syndrome – Genetics Home Reference – NIH.
  3. Fragile XE Syndrome – Patient Information – First Signs.
  4. Copy number variation in XE disease.
  5. Premutation of the FMR1 gene in patients with fragile XE syndrome: effects on genetic testing.
  6. Fragile XE Syndrome – Rare Diseases Catalog.
  7. Fragile XE Syndrome – Patient Information – Advocacy Center.
  8. Fragile XE Syndrome – Mayo Clinic.
  9. Scientific articles about fragile XE syndrome can be found on PubMed
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.