Fragile X syndrome – Austra Health

Fragile X syndrome (FXS) is a rare genetic disorder that affects both males and females. It is caused by changes in the FMR1 gene on the X chromosome. The FMR1 gene provides instructions for making a protein called fragile X mental retardation protein (FMRP).

Fragile X syndrome is the most common known cause of inherited intellectual disability. It is estimated that about 1 in 4,000 males and 1 in 8,000 females have the full mutation that causes FXS. However, many individuals with FXS have milder forms of the condition and may go undiagnosed.

Individuals with fragile X syndrome may have a range of physical, cognitive, and behavioral symptoms. These can include developmental delays, intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and anxiety. The severity of symptoms can vary widely among affected individuals.

Advocacy groups and research centers, such as the National Fragile X Foundation and the MIND Institute at the UC Davis Health, offer support, resources, and information about the syndrome. Clinical trials are also conducted to learn more about fragile X syndrome and potential treatments. More information about the syndrome can be found on websites like OMIM, PubMed, and ClinicalTrials.gov.

Frequency

Fragile X syndrome is the most common inherited cause of intellectual disability, affecting about 1 in 4,000 males and 1 in 8,000 females. It is a rare genetic disorder, however, it occurs more frequently in certain populations.

The syndrome is caused by a mutation in the FMR1 gene, which leads to a lack of fragile X mental retardation protein (FMRP). This protein is important for normal brain development and function. The absence of FMRP affects the communication between brain cells and causes the characteristic symptoms of fragile X syndrome.

Testing for fragile X syndrome can be done through genetic testing, which examines the FMR1 gene. Additional testing may be done to learn more about the patient’s genetic condition and associated disorders.

According to the Online Mendelian Inheritance in Man (OMIM) catalog, there are other rare diseases associated with the FMR1 gene. These include fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). The frequency of these conditions is lower than that of fragile X syndrome, but they are also important to consider in clinical practice.

There have been many scientific studies and articles published about the frequency and clinical features of fragile X syndrome. PubMed is a valuable resource to find these articles and learn more about the condition. Additionally, the National Fragile X Foundation and other advocacy organizations provide information and support for individuals and families affected by fragile X syndrome.

In conclusion, fragile X syndrome is a rare genetic disorder that affects both males and females, but occurs more frequently in males. It is caused by a mutation in the FMR1 gene, which leads to the absence of the fragile X mental retardation protein. Testing for fragile X syndrome and associated disorders can provide valuable information for patient care and management.

Causes

Fragile X syndrome is a genetic disorder caused by a mutation in the FMR1 gene. The FMR1 gene provides instructions for making a protein called fragile X mental retardation 1 protein (FMRP). This protein is involved in the development and function of the brain. Mutations in the FMR1 gene lead to a decrease or absence of FMRP, which results in the symptoms and characteristics of fragile X syndrome.

The FMR1 gene mutation in fragile X syndrome is characterized by the expansion of a specific DNA sequence, known as CGG repeats. In individuals without fragile X syndrome, the CGG repeats in the FMR1 gene typically range from 5 to 44 repeats. However, in individuals with fragile X syndrome, the CGG repeats can range from 200 to more than 1,000 repeats.

This abnormal expansion of CGG repeats can interfere with the normal functioning of the FMR1 gene. It leads to the silencing of the FMR1 gene, preventing it from making the FMRP protein. The absence of this protein disrupts the normal development and function of the brain, leading to the characteristic features of fragile X syndrome.

Fragile X syndrome is typically inherited in an X-linked dominant manner. This means that both males and females can be affected by the syndrome, but it is more commonly observed in males. The FMR1 gene is located on the X chromosome, and individuals with fragile X syndrome have a mutation in one of their two X chromosomes. If a woman has a mutation in one of her X chromosomes, she has a 50% chance of passing the mutation to each of her children. If a man has a mutation in his X chromosome, he will pass the mutation to all of his daughters but none of his sons, as sons receive their X chromosome from their mother and their Y chromosome from their father.

While the genetic cause of fragile X syndrome is well-established, the exact mechanisms by which the absence or decrease of FMRP leads to the symptoms of the syndrome are still being studied. Research and clinical studies are focused on further understanding the underlying biological processes and identifying potential targets for therapeutic interventions.

To learn more about the causes and the FMR1 gene mutation associated with fragile X syndrome, additional information can be found through research articles and scientific resources. Some useful resources include:

These resources provide comprehensive information on the genetics, clinical presentations, and ongoing research related to fragile X syndrome. They can serve as valuable references for patients, families, and healthcare professionals seeking more information about the causes and management of this condition. Additionally, advocacy and support organizations can provide further guidance and resources to individuals affected by fragile X syndrome and their families.

Learn more about the gene associated with Fragile X syndrome

Fragile X syndrome is a rare genetic condition that affects both men and women. It is primarily caused by a mutation in the FMR1 gene, which stands for Fragile X Mental Retardation 1. This gene provides instructions for making a protein called FMRP, which is essential for normal brain development and function.

Individuals with Fragile X syndrome have abnormalities in the FMR1 gene, specifically in a region called the CGG trinucleotide repeat. Normally, this region contains 5 to 40 CGG repeats. However, in individuals with Fragile X syndrome, the number of CGG repeats is significantly increased, often exceeding 200. This expansion leads to the inactivation of the FMR1 gene and a deficiency of FMRP.

FMRP is involved in regulating the production of other proteins in the brain. Without enough FMRP, the brain experiences disruptions in synaptic function, which can result in the characteristic symptoms of Fragile X syndrome, such as intellectual disability, learning difficulties, and behavioral challenges.

Research on the FMR1 gene and Fragile X syndrome has led to the development of various resources and testing methods for affected individuals and their families. Here are some key resources for learning more about the gene associated with Fragile X syndrome:

Fragile X Clinical & Research Consortium: This is a network of clinics and research centers focused on Fragile X syndrome. They provide clinical care, conduct scientific studies, and offer resources for patients and families. You can find more information on their website.
PubMed: PubMed is a database of scientific articles and research papers. Searching for “FMR1” or “Fragile X syndrome” on PubMed can provide you with additional scientific information on the gene and the condition.
OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. The entry for the FMR1 gene in OMIM provides detailed information about its structure, function, and associated disorders.
Seminars in Medical Genetics: This scientific journal publishes articles and reviews on various genetic conditions, including Fragile X syndrome. It can be a valuable resource for understanding the genetics and clinical aspects of the syndrome.
ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical studies and research trials. By searching for “Fragile X syndrome” on ClinicalTrials.gov, you can find information about ongoing studies and opportunities to participate in research.

These resources, along with others not mentioned here, can provide you with more information about the FMR1 gene, Fragile X syndrome, and the support and testing options available for individuals and families affected by this rare condition.

Inheritance

The primary cause of Fragile X syndrome is a genetic mutation in the FMR1 gene. This gene is located on the X chromosome. Typically, males are more affected by this condition than females due to the inheritance pattern of the X chromosome.

Affected individuals have a repeated sequence of CGG nucleotides in the FMR1 gene. The number of CGG repeats determines the severity of the condition. Normally, the FMR1 gene has 5 to 44 CGG repeats, but individuals with Fragile X syndrome have over 200 CGG repeats.

In most cases, Fragile X syndrome is inherited in an X-linked dominant manner. This means that a single copy of the mutated gene is enough to cause the condition. However, women who have the mutated gene are usually less severely affected than men.

Fragile X syndrome is often associated with chromosome abnormalities. The X chromosome of affected individuals may have a characteristic “fragile” appearance when viewed under a microscope, hence the name “Fragile X syndrome.” This fragility is due to the large number of CGG repeats in the FMR1 gene.

Genetic testing is available to confirm the diagnosis of Fragile X syndrome. This testing involves analyzing the FMR1 gene for the presence of CGG repeats. Additional testing, such as fluorescent in situ hybridization (FISH) analysis, may be done to detect the fragile site on the X chromosome.

For more information about inheritance patterns and genetic testing options, you can consult the following resources:

Online Mendelian Inheritance in Man (OMIM): Provides comprehensive information about genes, genetic disorders, and their associated inheritance patterns. [1]
National Fragile X Foundation: A nonprofit organization dedicated to promoting awareness, advocacy, and support for individuals and families affected by Fragile X syndrome. [2]
ClinicalTrials.gov: A database of ongoing clinical trials related to Fragile X syndrome and other genetic disorders. [3]
The Journal of Medical Genetics: Publishes scientific articles and research studies on Fragile X syndrome and other genetic conditions. [4]
PubMed: Offers free access to scientific articles and research studies on Fragile X syndrome and other genetic diseases. [5]

References:

Online Mendelian Inheritance in Man. Available at: https://omim.org/entry/300624
National Fragile X Foundation. Available at: https://fragilex.org/
ClinicalTrials.gov. Available at: https://clinicaltrialsgov
The Journal of Medical Genetics. Available at: https://jmg.bmj.com/
PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/

Other Names for This Condition

Other names for fragile X syndrome include:

Martin-Bell syndrome
Marker X syndrome
FRAXA

The primary gene associated with fragile X syndrome is called the FMR1 gene. This gene contains a repeat of the CGG triplet, which affects the production of a protein called fragile X mental retardation protein (FMRP).

Fragile X syndrome is one of the most common causes of inherited intellectual disabilities. It is a rare genetic disorder that occurs when a specific gene on the X chromosome, called the FMR1 gene, is mutated.

There are other genes associated with fragile X syndrome, including FMR2 and FMR3, but the FMR1 gene is the most well-studied and understood.

ClinicalTrials.gov provides additional information on current clinical trials related to fragile X syndrome. You can learn more about this condition and find references for scientific articles on the disease through websites such as OMIM and PubMed.

Support and advocacy organizations can provide more information and resources for individuals affected by fragile X syndrome, as well as their families. The Hagerman Lab at the University of California, Davis is a center of research and information on fragile X syndrome and related disorders.

Additional Information Resources

If you would like to learn more about Fragile X syndrome, the following resources can provide additional information:

Websites:

The FMR1 gene page on the National Center for Biotechnology Information’s (NCBI) website provides scientific information about the gene associated with Fragile X syndrome.
The PubMed website contains articles and studies related to Fragile X syndrome.
Visit the OMIM (Online Mendelian Inheritance in Man) page for detailed information on the genetics and inheritance of Fragile X syndrome.

Clinical Trials:

Check out ClinicalTrials.gov for information on current clinical trials and studies being conducted on Fragile X syndrome.

Support and Advocacy:

The National Fragile X Foundation offers support and resources for individuals and families affected by Fragile X syndrome.

These resources provide information on Fragile X syndrome, its causes, genetic testing, associated conditions, and more. They are valuable sources for further research and learning about this rare genetic disorder.

Genetic Testing Information

Genetic testing can be a valuable tool for patients and their families to understand the causes of Fragile X syndrome. By analyzing the FMR1 gene, which is associated with this condition, individuals can learn if they have an altered version of the gene that affects the production of fragile X mental retardation protein (FMRP).

There are several means of genetic testing available for Fragile X syndrome. The primary method is the polymerase chain reaction (PCR) test, which detects the number of CGG repeats on the FMR1 gene. Individuals with a higher number of CGG repeats may have an increased risk of developing Fragile X syndrome.

Clinical laboratories and research studies often offer genetic testing for Fragile X syndrome. Patients can find testing and resources through organizations such as the National Fragile X Foundation, which provides support and advocacy for individuals with Fragile X and their families.

Further information about genetic testing for Fragile X syndrome can be found on the ClinicalTrials.gov website. This online catalog of clinical research studies highlights ongoing studies related to Fragile X and other associated genetic disorders.

For a more scientific perspective, PubMed is a valuable resource for articles and research related to Fragile X syndrome. This database includes references to primary research articles about Fragile X and the genes associated with the condition.

OMIM (Online Mendelian Inheritance in Man) is another useful resource for individuals seeking genetic testing information. It provides comprehensive information on the genetic basis of rare and common diseases, including Fragile X syndrome and its associated genes.

In conclusion, genetic testing can provide important information about Fragile X syndrome and its inheritance patterns. Patients and their families can access testing through clinical laboratories, research studies, and genetic advocacy organizations. Online resources such as ClinicalTrials.gov, PubMed, and OMIM offer additional information and support. Genetic testing for Fragile X syndrome is often free, but additional studies may be necessary for a complete understanding of the condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free online resource that provides information on genetic and rare diseases. GARD offers a catalog of articles that cover a wide range of topics related to these conditions, including Fragile X syndrome.

Fragile X syndrome is a rare genetic condition that is inherited in an X-linked dominant manner. It is caused by changes in the FMR1 gene, which is located on the X chromosome. The syndrome is most often associated with intellectual disability and various physical and behavioral characteristics.

The GARD website provides a wealth of information on this condition, including information on its causes, symptoms, diagnosis, and management. The site also offers links to other resources, such as OMIM and PubMed, where you can find additional scientific references and research studies on Fragile X syndrome.

One of the key features of the GARD website is its patient-friendly approach to providing information. The content is written in plain language and is accessible to individuals with little or no medical background. This makes it a valuable resource for patients, their families, and caregivers who are looking for reliable and easy-to-understand information on Fragile X syndrome.

In addition to providing information, GARD also offers resources for support and advocacy. The center provides links to patient support groups, clinical trial information on ClinicalTrials.gov, and information on how to get involved in research studies. These resources can help individuals and families affected by Fragile X syndrome connect with others, access support services, and stay up-to-date on the latest research developments.

If you are interested in learning more about Fragile X syndrome or other rare genetic disorders, the Genetic and Rare Diseases Information Center is an excellent resource. Visit their website to access free information, articles, and resources on a wide range of genetic and rare diseases.

Patient Support and Advocacy Resources

There are several resources available to provide support and advocacy for patients with Fragile X syndrome and their families. These resources offer a wide range of information and assistance, including genetic testing, clinical trials, patient support groups, and more.

Fragile X Association of America: The Fragile X Association of America (FXAA) is a primary resource for individuals and families affected by Fragile X syndrome. Their website provides comprehensive information about the condition, clinical research, available support services, and advocacy opportunities.
National Fragile X Foundation: The National Fragile X Foundation (NFXF) is another important organization that offers support, education, and advocacy for individuals with Fragile X syndrome and their families. The NFXF website provides helpful resources, such as educational materials, research updates, and information about local support groups.
ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of clinical studies conducted around the world. Patients and their families can search for ongoing or upcoming clinical trials related to Fragile X syndrome and find information about the trials’ objectives, eligibility criteria, and contact details.
PubMed: PubMed is a database of scientific articles and publications. It is a valuable resource for patients and researchers interested in learning more about Fragile X syndrome and related genetic disorders. PubMed allows users to search for articles and access abstracts or full-text versions.
Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. It provides detailed information about specific genes, their associated diseases, inheritance patterns, and clinical features. Patients and their families can use OMIM to learn more about Fragile X syndrome and its genetic basis.

Research Studies from ClinicalTrials.gov

Fragile X syndrome is a rare genetic condition that is associated with a variety of intellectual and developmental disorders. It is caused by a mutation in the FMR1 gene, which leads to a decrease or absence of the fragile X mental retardation protein (FMRP). This protein plays a crucial role in the development and function of the brain.

Research studies have been conducted to better understand the frequency and inheritance of fragile X syndrome, as well as to learn more about the genes and chromosomes involved in the condition. ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials and research studies related to fragile X syndrome.

Many of these studies focus on testing new treatments and therapies for patients with fragile X syndrome. Additionally, researchers are exploring the causes and mechanisms of the condition, as well as its impact on affected individuals and their families.

It is important to note that fragile X syndrome is just one of many rare genetic disorders that are studied through research. ClinicalTrials.gov provides a comprehensive catalog of ongoing studies, giving researchers and patients access to the latest information and resources.

For more information about fragile X syndrome, advocacy groups such as the National Fragile X Foundation and the FRAXA Research Foundation provide additional resources and support for affected individuals and their families. Scientific articles and references can also be found through PubMed, a free online database of scientific literature.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a database that provides comprehensive information about genes and the diseases associated with them. It is a valuable resource for researchers, clinicians, and anyone interested in genetic disorders.

OMIM is a catalog that lists genes and the diseases they cause. It provides information about the inheritance patterns, clinical features, and molecular basis of these diseases. The catalog is organized by the name of the gene or disease, making it easy to navigate and search for specific conditions or genes of interest.

The primary focus of OMIM is on rare genetic disorders. However, it also includes information on more common conditions. The catalog contains articles, scientific studies, and other references that support the information provided. It covers a wide range of topics related to genetics, including the Fragile X syndrome.

Fragile X syndrome is associated with the FMR1 gene. It is a condition that occurs mostly in men and is characterized by intellectual disabilities and certain physical features. The fragile X syndrome is caused by an expansion of the CGG repeat in the FMR1 gene, which leads to a lack of the FMRP protein.

OMIM provides detailed information about the fragile X syndrome, including its clinical features, genetic testing, inheritance patterns, and associated conditions. The catalog also includes references to scientific research and clinical trials related to the syndrome. This information is essential for healthcare professionals, researchers, and individuals affected by the fragile X syndrome.

In addition to the fragile X syndrome, OMIM contains information about many other genetic disorders. It is a comprehensive resource that covers a wide range of rare and common conditions. The catalog supports research, advocacy, and patient care by providing free access to valuable genetic information.

OMIM is a reliable source of information for anyone interested in genetics. It is regularly updated with the latest research findings and new discoveries. The catalog can be accessed online for free, making it easily accessible to researchers, clinicians, and the general public.

For more information about genes, diseases, and genetic testing, you can visit OMIM’s website, PubMed, or ClinicalTrials.gov. These resources provide additional information and support for those interested in learning more about genetics and genetic disorders.

References:

Hagerman, R. J. (1996). Fragile X Syndrome. Semin. Seminars in medical genetics, 7(3), 225–233.
OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved January 4, 2022, from OMIM website: https://omim.org/

Scientific Articles on PubMed

Fragile X syndrome is a rare genetic condition that affects the FMR1 gene. Scientific articles on PubMed provide crucial information about this condition and contribute to further research in the field.

The FMR1 gene is located on the X chromosome, and its inheritance follows an X-linked pattern. This means that affected individuals typically have an alteration in their FMR1 gene that causes a reduction or absence of a protein called FMRP.

PubMed is a comprehensive database that houses numerous scientific articles related to various disorders and diseases. It serves as a valuable resource for clinicians, researchers, and advocates aiming to learn more about Fragile X syndrome and its associated clinical features.

Through PubMed, researchers have identified additional genes and genetic variants that can have an impact on Fragile X syndrome. Studies have shed light on the frequency of these genetic alterations in the general population and their association with similar clinical presentations.

Clinical trials listed on ClinicalTrials.gov offer valuable information on ongoing research, testing, and potential treatments for Fragile X syndrome. These trials further support the development of new therapies and interventions for affected individuals.

Advocacy groups like the National Fragile X Foundation have compiled cataloged resources and information on Fragile X syndrome. This includes support for affected individuals and their families, patient advocacy resources, and opportunities for peer support.

In conclusion, scientific articles on PubMed provide a wealth of information about Fragile X syndrome and contribute to ongoing research and understanding of the condition. By exploring this repository, researchers, clinicians, and advocates can access free articles and learn more about the genetic causes, clinical features, testing options, and additional resources available for Fragile X syndrome.

References

Hagerman, R. J. (2002). The physical and behavioral phenotype. Advances in Pediatrics, 49, 79-109.
National Center for Biotechnology Information (NCBI). (2000). FMR1 gene. In GeneTests: Medical Genetics Information Resource. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1435/
Online Mendelian Inheritance in Man (OMIM). (2018). FMR1 gene. In OMIM: Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/search?index=entry&start=1&limit=10&sort=score+desc&search=%3D%3Dfmr1
Advocacy Resources and Genetic Education Network (AGENDA). (n.d.). Fragile X Syndrome. Retrieved from https://www.fragilex.org/what-is-fragile-x/
Centers for Disease Control and Prevention (CDC). (2017). Fragile X Syndrome: Data and Statistics. Retrieved from https://www.cdc.gov/ncbddd/fxs/data.html
National Fragile X Foundation (NFXF). (n.d.). Fragile X Syndrome. Retrieved from https://fragilex.org/fragile-x/family-support/
US National Library of Medicine. (n.d.). PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
ClinicalTrials.gov. (n.d.). Retrieved from https://clinicaltrials.gov/