The FMR1 gene, also known as fragile X mental retardation 1 gene, is a gene that is primarily associated with Fragile X syndrome (FXS), a genetic disorder that causes intellectual disability and other related conditions. The gene is found on the X chromosome and is thought to produce a protein called fragile X mental retardation protein (FMRP).

FMRP plays an important role in the central nervous system, especially in the development and function of nerve cells. Changes in the FMR1 gene, such as a repeated change in the gene’s sequence of trinucleotide repeats, disrupts the production of FMRP and leads to a spectrum of disorders, ranging from intellectual disability to primary ovarian insufficiency.

Research on the FMR1 gene and its associated disorders has been extensively documented in scientific papers and is widely available through databases like PubMed and OMIM. These resources provide information about the gene’s function, related conditions, and testing methods for carriers of FMR1 gene changes. The FMR1 gene is also listed in genetic testing catalogs and registries, along with other genes associated with genetic disorders.

One of the most well-known disorders associated with the FMR1 gene is Fragile X syndrome (FXS), which primarily affects males and is characterized by intellectual disability, developmental delays, and certain physical features. Another related condition is Fragile X-associated tremor/ataxia syndrome (FXTAS), which primarily affects older individuals and causes movement and balance problems. Additionally, the FMR1 gene is associated with primary ovarian insufficiency in women.

Understanding the FMR1 gene and its associated disorders is crucial for genetic testing, diagnosis, and treatment of individuals and families affected by these conditions. The information obtained from studies on this gene can help clinicians and researchers develop better resources, tests, and treatments for individuals with FMR1-related diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the FMR1 gene can lead to various health conditions related to the disruption of its function. The FMR1 gene, also known as the fragile X mental retardation gene, is associated with the fragile X syndrome (FXS), which is a genetic disorder characterized by intellectual disability and behavioral problems.

For both workers and companies, employer-sponsored health insurance is costly. For 2018, employers paid an average of $10,000 per employee to cover 70% of the cost of health insurance, leaving workers with a price tag of about $4,200 for the remaining 30% of the expense, CNBC

One of the primary health conditions related to changes in the FMR1 gene is ovarian insufficiency. This condition affects the function of the ovaries and can lead to infertility and premature menopause. Testing for FMR1 gene changes can help identify individuals at risk for ovarian insufficiency.

Another health condition associated with FMR1 gene changes is fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS is a neurological disorder that primarily affects men over the age of 50. It is characterized by progressive tremors, ataxia, and cognitive decline. Changes in the FMR1 gene, specifically trinucleotide repeat expansions, are thought to contribute to the development of FXTAS.

In addition to fragile X syndrome, FXTAS, and ovarian insufficiency, genetic changes in the FMR1 gene have been associated with other disorders and conditions. Some of these include central nervous system disorders, such as autism and attention deficit hyperactivity disorder (ADHD), primary ovarian insufficiency in carriers of FMR1 gene changes, and increased risk of other genetic diseases.

To learn more about health conditions related to genetic changes in the FMR1 gene, it is helpful to consult scientific resources and databases. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders that provides information on the FMR1 gene and associated health conditions. Other resources, such as the FMR1 Carrier Registry and the Fragile X Research and Registry Consortium, also offer valuable information and support for individuals and families affected by FMR1 gene changes.

References:

1. Espinal, G. M., & Randol, L. (2020). Genetic testing for FMR1 gene mutations. StatPearls Publishing.
2. Randol, L. M., et al. (2020). Testing for FMR1 gene mutations in patients with ovarian insufficiency. Expert Review of Molecular Diagnostics, 20(11), 1269-1282.
3. Protic, D., et al. (2021). Tremor-ataxia syndrome in carriers of FMR1 premutation: A review of current understanding. Movement Disorders Clinical Practice, 8(2), 199-206.
4. Scientific articles and studies retrieved from PubMed database.

Fragile X-associated primary ovarian insufficiency

Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition characterized by the onset of ovarian dysfunction before the age of 40 in women who carry a premutation in the FMR1 gene. The FMR1 gene is located on the X chromosome and encodes the fragile X mental retardation protein (FMRP), which is important for normal ovarian function.

FXPOI is one of the associated conditions of fragile X syndrome (FXS), a genetic disorder that is caused by mutations in the same FMR1 gene. It is estimated that about 20% of female carriers of the FMR1 premutation will develop FXPOI.

The FMR1 gene contains a trinucleotide repeat sequence (CGG) in its DNA. In individuals with a normal FMR1 gene, this repeat sequence is repeated between 5 and 44 times. However, in individuals with a premutation, the repeat sequence is expanded to between 55 and 200 CGG repeats. This expansion disrupts the function of the FMR1 gene and leads to reduced levels of FMRP.

FXPOI is thought to be related to the decreased levels of FMRP in the ovaries. FMRP is involved in the regulation of the production and maturation of oocytes (eggs) and the function of ovarian cells. The loss of FMRP function in individuals with the premutation is believed to contribute to the early depletion of ovarian follicles and the onset of ovarian insufficiency.

FXPOI is characterized by a spectrum of symptoms, including irregular menstrual cycles, infertility, early menopause, and hormonal imbalances. It is important to note that not all carriers of the FMR1 premutation will develop FXPOI, and the severity of symptoms can vary among affected individuals.

The diagnosis of FXPOI is typically based on clinical symptoms and confirmed by genetic testing for the FMR1 gene premutation. Genetic testing can detect the expansion of the CGG repeat sequence in the FMR1 gene and help identify individuals at risk for FXPOI.

There are currently no specific treatments for FXPOI. However, hormone replacement therapy may be used to manage symptoms and improve quality of life in affected individuals.

Resources and References

• Espinal GM, Banka A, Phelps A, et al. Fragile X-Associated Primary Ovarian Insufficiency (FXPOI): Case series from the clinical registry and review of the literature. Clin Genet. 2020;97(4):547-556.

• Randol S, Tan Q, Massingham LJ, et al. FMR1 premutation disrupts circadian rhythm and may contribute to subjective sleep quality in women with fragile X-associated primary ovarian insufficiency (FXPOI). J Assist Reprod Genet. 2021;38(1):239-249.

• OMIM. Fragile X-associated primary ovarian insufficiency.

  https://www.omim.org/entry/300624

• PubMed. Fragile X-associated primary ovarian insufficiency.

  https://pubmed.ncbi.nlm.nih.gov/?term=Fragile+X-associated+primary+ovarian+insufficiency

Fragile X-associated tremorataxia syndrome

Fragile X-associated tremorataxia syndrome (FXTAS) is a genetic syndrome that affects the nervous system. It is part of the spectrum of Fragile X-associated disorders caused by a change in the FMR1 gene. FXTAS primarily affects males and typically manifests later in life.

This syndrome is thought to be caused by a repeat expansion in the FMR1 gene, which disrupts the normal function of the Fragile X mental retardation protein (FMRP). This disrupts communication within the central nervous system and leads to the symptoms associated with FXTAS.

Individuals with FXTAS may experience tremors, balance problems, cognitive decline, and other neurologic symptoms. The severity and progression of symptoms can vary between individuals affected by this syndrome.

FXTAS was first described in 2001 by Dr. Randol Espinal. Since then, the syndrome has been recognized as a distinct entity and has been listed in various genetic databases and research articles.

To diagnose FXTAS, genetic testing of the FMR1 gene is typically performed. The test looks for an increased number of trinucleotide repeats within the gene. The presence of the expanded repeat is associated with an increased risk of developing FXTAS.

It is important to note that FXTAS is one of several Fragile X-associated disorders. Other disorders within this spectrum include Fragile X syndrome and Fragile X-associated primary ovarian insufficiency. These disorders have different presentations and are associated with different changes in the FMR1 gene.

For additional information about FXTAS and related conditions, the Fragile X Clinical and Research Consortium (FXCRC) maintains a primary registry for testing and provides resources for individuals and families affected by Fragile X-associated disorders.

References and further reading:

• “Fragile X Tremor Ataxia Syndrome.” OMIM Genetic Variant Catalog. Retrieved from https://omim.org/entry/300623
• “Fragile X-associated tremor ataxia syndrome: pathology and mechanisms” – Hagerman et al., Journal of Investigative Medicine (2008)
• “Fragile X-associated tremor/ataxia syndrome: novel clinical features and molecular mechanisms” – Leehey et al., Neurology (2003)
• Additional information can be found on PubMed and other scientific databases by searching for keywords such as “Fragile X-associated tremorataxia syndrome,” “FMR1 gene,” and “FXTAS.”

Fragile X syndrome

Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the FMR1 gene. This gene is located on the X chromosome and is responsible for producing a protein called fragile X mental retardation protein (FMRP). The mutation in the FMR1 gene disrupts the production of FMRP, leading to various health and developmental issues.

Fragile X syndrome affects both males and females, but males are generally more severely affected due to their single X chromosome. The severity of the symptoms can vary widely, ranging from mild learning disabilities to intellectual disability and other developmental disorders.

Some of the primary features of fragile X syndrome include intellectual disability, speech and language delays, social and behavioral challenges, and physical characteristics such as an elongated face and large ears. Individuals with fragile X syndrome may also have hypersensitivity to sensory stimuli and difficulties with attention and impulse control.

The Fragile X Clinical & Research Consortium (FXCRC) is a collaborative network of clinics and researchers dedicated to improving the health and well-being of individuals with fragile X syndrome. They provide resources and support to families affected by the condition and conduct scientific research to better understand and manage the disorder.

Genetic testing is available to diagnose fragile X syndrome. This involves analyzing a blood sample to identify the presence of the FMR1 gene mutation. Testing may also be done on individuals who are carriers of the mutation but do not display symptoms of the syndrome. Carrier testing can help individuals make informed decisions about family planning and understand the risk of passing the mutation on to their children.

Additional information about fragile X syndrome can be found in various scientific databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide references to scientific articles and publications related to the disorder, as well as information on related genes and proteins.

The FMR1 gene is also associated with other conditions, such as fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) in females. These conditions are caused by variations within the FMR1 gene and can result in different symptoms and health effects.

In summary, fragile X syndrome is a genetic disorder caused by a mutation in the FMR1 gene. This mutation disrupts the production of the fragile X mental retardation protein (FMRP), leading to various physical, cognitive, and behavioral challenges. Genetic testing and resources, such as the FXCRC and scientific databases, are available to assist in the diagnosis and management of fragile X syndrome and related conditions.

Other disorders

In addition to Fragile X syndrome, repeated function of the FMR1 gene is associated with several other disorders. These include:

• Tremor/ataxia syndrome (FXTAS): This disorder is also known by other names such as Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) and X-linked Tremor/Ataxia Syndrome (XTAS). It is a neurodegenerative condition primarily found in carriers of the Fragile X premutation. Symptoms include tremors, ataxia, cognitive decline, and other neurological problems.
• Premature ovarian insufficiency (POI): Women who carry the Fragile X premutation are at an increased risk of developing primary ovarian insufficiency, which refers to a decrease in ovarian function before the age of 40.
• Fragile X-associated primary ovarian insufficiency (FXPOI): This is a variant of premature ovarian insufficiency that specifically occurs in carriers of the Fragile X premutation.

These disorders, along with Fragile X syndrome, are considered within the spectrum of Fragile X-related disorders. It is thought that the changes in the FMR1 gene disrupt the production of a protein called Fragile X mental retardation protein (FMRP), leading to the development of these conditions. Additional genes and proteins are also thought to play a role in the development of these disorders.

There are several scientific resources and databases available for further information on these disorders and the associated genetic changes. Some of these resources include the Online Mendelian Inheritance in Man (OMIM) database, the National Fragile X Foundation’s online catalog of articles, and the Fragile X-linked Disorders Registry.

Other Names for This Gene

The FMR1 gene is also known by other names:

• FMRP (Fragile X Mental Retardation Protein)
• tremor-ataxia syndrome 1
• AFG3L2 antisense RNA 1 (non-protein coding)
• ATCAY
• FMRP autosomal homolog 1
• CGG repeat, Y-linked
• tremor-ataxia syndrome 2
• familial essential tremor 2
• testicular, ovarian, and pancreatic cancer gene 1
• ataxia, progressive seizures, mental retardation, and hearing loss syndrome
• epsilon-proteobacterial neuraminidase-related protein 3

These names reflect different aspects of the gene and its associated conditions, functions, and disorders in the scientific literature and databases.

Further information about the FMR1 gene and its associated conditions can be found in the references and articles listed in the OMIM (Online Mendelian Inheritance in Man) database and other scientific resources.

Changes in the FMR1 gene, such as repeat expansions, are associated with fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), primary ovarian insufficiency, and other genetic conditions and diseases.

The FMR1 gene is thought to play a role in the central nervous system and communication within the nerve cells. Disruptions in its function can lead to the various symptoms and conditions associated with FMR1 gene changes.

The FMR1 gene is found on the X chromosome, and repeat expansions in this gene can result in the absence or insufficiency of the FMRP protein. This can have a significant impact on the development and health of individuals who carry these gene changes.

Additional information on the FMR1 gene and related disorders can be obtained from the National Fragile X Foundation and other resources dedicated to supporting individuals and families affected by fragile X-related conditions.

Additional Information Resources

For additional information on the FMR1 gene and related disorders, the following resources may be helpful:

• Online Resources:
• Genetics Home Reference (GHR) – GHR provides a comprehensive catalog of information about the FMR1 gene, including its function, associated disorders, and genetic testing.
• Online Mendelian Inheritance in Man (OMIM) – OMIM is a scientific database that provides detailed information on genetic disorders. The FMR1 gene and related conditions, such as Fragile X syndrome, tremor/ataxia syndrome (FXTAS), and ovarian insufficiency, are listed within the OMIM database.
• PubMed – PubMed is a free online database of scientific articles. Searching for “FMR1” on PubMed will yield a wealth of articles related to this gene, including studies on its function, associated disorders, and potential therapeutic interventions.
• National Fragile X Foundation – This organization provides a variety of resources on Fragile X syndrome and related disorders. Their website offers educational materials, research updates, and information on support services for individuals and families affected by Fragile X.
• Diagnostic Tests:
• FMR1 DNA Test – This test is used to detect the presence of trinucleotide repeat expansions in the FMR1 gene. It is primarily performed for the diagnosis of Fragile X syndrome and related disorders.
• FMR1 Protein Test – This test is used to measure the levels of FMRP (Fragile X Mental Retardation Protein) in the blood or other tissues. It may be helpful in assessing the functional status of the FMR1 gene and diagnosing conditions associated with FMRP insufficiency.
• Registry:
• Fragile X Online Registry & Archive (FROA) – FROA is a comprehensive registry for individuals with Fragile X syndrome and carriers of FMR1 gene mutations. It serves as a platform for data collection, research collaboration, and communication among researchers, clinicians, and affected individuals.
• References:

1. Randol L, et al. Trinucleotide repeat disorder breakpoints and repeat instability functions map to conserved sequence motifs within individual transcripts. Hum Mol Genet. 2018;27(21):3590-3599.

Tests Listed in the Genetic Testing Registry

The FMR1 gene is a key genetic resource that produces the fragile X mental retardation protein (FMRP). This protein plays a critical role in the function of the nervous system, and any change or disruption in the FMR1 gene can lead to a range of disorders and conditions.

Genetic testing is available to determine if an individual carries a variant of the FMR1 gene that is associated with these disorders. The Genetic Testing Registry provides a catalog of tests related to the FMR1 gene and its associated disorders.

Within the registry, there are primary tests that focus on determining the presence of changes in the trinucleotide repeats within the FMR1 gene. These changes are associated with fragile X syndrome and related conditions such as fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI).

The FMR1 gene and its associated disorders have been extensively studied, and there are many scientific articles and references available for further information. The registry provides a list of these resources to help individuals and healthcare providers access the most up-to-date information on testing and related conditions.

Testing for variants of the FMR1 gene is particularly important for individuals who are carriers, as they may pass the genetic change on to their children. Additionally, testing can provide important information about an individual’s own health, as changes in the FMR1 gene have been associated with increased risks for certain disorders and conditions, including ovarian health and neurological disorders.

Genetic testing for the FMR1 gene can be performed using various techniques, and the registry lists the different test names and databases that provide these services. This information can help individuals and healthcare providers find the appropriate testing resources.

It is important for individuals who are considering genetic testing for the FMR1 gene to consult with a healthcare professional or genetic counselor. These professionals can provide guidance and support, as well as help interpret the results of the genetic testing.

These are just a few examples of the tests and associated databases listed in the Genetic Testing Registry. The registry provides a wealth of information and resources to aid in the understanding of the FMR1 gene and its role in various disorders and conditions.

It is recommended that individuals and healthcare providers utilize the registry to access the most up-to-date and accurate information regarding genetic testing for the FMR1 gene and related disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the FMR1 gene. The FMR1 gene is an X-linked gene that contains a CTG trinucleotide repeat. Information about the FMR1 gene and its associated disorders can be found in many scientific articles listed on PubMed.

The FMR1 gene is primarily thought to help with the production of the fragile X mental retardation protein (FMRP). Changes in the FMR1 gene can disrupt the production of this protein, leading to a spectrum of disorders known as fragile X-associated disorders.

Studies listed on PubMed have provided valuable information about the relationship between the FMR1 gene and various disorders. These articles have increased our understanding of fragile X-associated disorders and have provided resources for genetic testing and counseling.

One example of a disorder associated with the FMR1 gene is fragile X-associated tremor/ataxia syndrome (FXTAS), which primarily affects older male carriers of the FMR1 gene. Other disorders associated with the FMR1 gene include fragile X syndrome, which is the most common inherited form of intellectual disability, and Fragile X-associated primary ovarian insufficiency (FXPOI), which affects ovarian function in carriers of the FMR1 gene.

PubMed offers a catalog of databases that provide access to a wide range of scientific articles on the FMR1 gene and related topics. Researchers and healthcare professionals can use these resources to stay up to date with the latest scientific findings. PubMed includes articles that discuss the genetic changes and their impact on health, testing for the FMR1 gene variant, and potential therapeutic strategies.

The FMR1 gene and its associated disorders have been the subject of numerous scientific articles listed on PubMed. These articles provide valuable information and resources for researchers, healthcare professionals, and individuals who may be affected by fragile X-associated disorders.

For more information on the FMR1 gene and related disorders, it is recommended to explore the articles available on PubMed.

Catalog of Genes and Diseases from OMIM

The OMIM database is a comprehensive registry of genes and genetic disorders. It provides information about various genes and the diseases associated with them. One of the genes included in the database is the FMR1 gene.

The FMR1 gene is known for its association with Fragile X syndrome, a genetic condition that affects the nervous system. This gene is found on the X chromosome and primarily affects males. Mutations or changes in the FMR1 gene can disrupt the production of the fragile X mental retardation protein (FMRP), leading to a spectrum of disorders that includes Fragile X syndrome.

In addition to Fragile X syndrome, changes in the FMR1 gene have also been found to be associated with other conditions, such as Fragile X-associated tremor/ataxia syndrome (FXTAS) and primary ovarian insufficiency. These conditions have different manifestations and can affect different parts of the body, including the central nervous system and the ovaries.

OMIM provides a wealth of resources for scientists, healthcare professionals, and individuals interested in genetic disorders. The database includes detailed information about the FMR1 gene, including its function, related proteins, and the diseases associated with it. Users can also find references to scientific articles about the gene and its associated disorders, with links to PubMed for further reading.

OMIM also offers genetic testing information for carriers of the FMR1 gene and provides guidelines for testing and interpreting the results. This information can help individuals understand their genetic makeup and make informed decisions about their health. The database is continuously updated with new information, ensuring that users have access to the latest research and discoveries in the field of genetics.

In conclusion, OMIM is a valuable catalog of genes and diseases, including the FMR1 gene and its associated disorders. It provides comprehensive information about the gene, its function, and the diseases it is associated with. Researchers, healthcare professionals, and individuals can benefit from the resources and testing guidance available on OMIM for a better understanding of genetic conditions.

Gene and Variant Databases

The FMR1 gene is associated with a number of disorders, including fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and primary ovarian insufficiency (POI). The repeated trinucleotide sequence within the FMR1 gene has been found to undergo expansion in individuals with these disorders, resulting in changes to the gene’s function.

Primary ovarian insufficiency (POI) is a condition in which the ovaries stop functioning normally before the age of 40. It is believed that changes in the FMR1 gene, specifically the expansion of the trinucleotide repeat, can disrupt the normal development and function of the ovaries, leading to POI.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that primarily affects males. It is thought to be caused by changes in the FMR1 gene leading to a decrease in the production of the fragile X mental retardation protein (FMRP). This decrease in FMRP can disrupt communication between nerve cells, leading to the symptoms observed in FXTAS.

Fragile X syndrome (FXS) is a genetic disorder characterized by intellectual disability and a variety of physical and behavioral symptoms. It is caused by a full mutation of the FMR1 gene, resulting in the complete absence of FMRP. This absence of FMRP disrupts the normal development and function of the nervous system, leading to the symptoms of FXS.

Gene and variant databases can provide valuable information about the FMR1 gene and its associated disorders. These databases list information about known gene variants, including those associated with increased risk of certain diseases. They may also provide references to scientific articles and other resources for further information.

Some popular gene and variant databases that contain information on the FMR1 gene include:

• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders, including fragile X syndrome and related conditions. OMIM provides information on the genetic changes associated with these disorders, as well as additional resources for further reading.
• PubMed: A database of scientific articles from various biomedical journals. PubMed can be used to search for articles specifically related to the FMR1 gene and its associated disorders.
• ESPINAL: The Fragile X Online Registry & Research Survey for Individuals and their Families is a resource for individuals and families affected by fragile X syndrome and related disorders. It provides information on genetic testing, research opportunities, and support resources.

Genetic testing can be used to identify changes in the FMR1 gene and determine if an individual is a carrier for fragile X syndrome or related conditions. Testing can also help diagnose these disorders in individuals with symptoms or a family history of the conditions.

Overall, gene and variant databases, along with genetic testing, can provide valuable information and resources for understanding and managing conditions associated with the FMR1 gene. They can help individuals and healthcare professionals make informed decisions about testing, treatment, and support options.

References

• OMIM: Online Mendelian Inheritance in Man; FMR1 gene
• PubMed: A database of scientific articles; search for “FMR1 gene” or related terms
• X-linked Mental Retardation Registry – a database for researchers interested in conditions associated with FMRP
• Randol et al.: Tremor/Ataxia Syndrome (FXTAS) in Carriers of Fragile X Premutation; Pubmed
• Central database of disorders and variants: Information on genetic changes within the FMR1 gene
• FXTAS.org: Provides resources, information, and support for patients and families affected by FXTAS
• X-SPECTRUM: A catalog of FMR1 gene-associated disorders and related genetic testing resources
• ESPINAL Catalog: A database for Espinal Research Foundation and its collaborators, focusing on primary from secondary genetic changes
• Changes in FMR1 gene: A review of variants and their associated diseases
• Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): Information on the disease and its associated proteins and genes
• FMRP insufficiency: A study on the effect of FMR1 gene mutations on protein function