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X-linked infantile nystagmus is a genetic condition that affects the eyes and is characterized by involuntary eye movements. It is associated with mutations in the FRMD7 gene, which is located on the X chromosome. This condition primarily affects males, as they have only one X chromosome.

The exact causes of X-linked infantile nystagmus are still unknown, but studies have shown that mutations in the FRMD7 gene are responsible for the occurrence of this condition. The frequency of this gene mutation within the population is rare, making X-linked infantile nystagmus a relatively uncommon condition.

Patients with X-linked infantile nystagmus typically develop the condition shortly after birth or within the first few months of life. The eye movements associated with this condition can vary in intensity and frequency. Some patients may have mild nystagmus, while others experience more severe and constant eye movements.

There are currently no known cures for X-linked infantile nystagmus, but there are various treatment options available to help manage the symptoms. These include wearing eyeglasses or contact lenses, using medications to reduce eye movements, and undergoing surgery in some cases. Additionally, supportive care and information resources are available for patients and their families, such as the Thomas Eye Group and advocacy organizations like the Nystagmus Network.

More research is needed to further understand the inheritance patterns and the exact mechanisms by which the FRMD7 gene mutation leads to X-linked infantile nystagmus. Additional studies and clinical trials are ongoing to learn more about this condition and to develop novel treatments. For more information and resources about X-linked infantile nystagmus, you can visit scientific catalogs and databases such as OMIM and PubMed, or search for relevant articles and clinical trials on websites like clinicaltrials.gov.

Frequency

Infantile nystagmus syndrome (INS) is a rare condition that is typically present at birth, although it may not be noticeable until later in infancy. It is estimated to affect about 1 in 1,000 to 1 in 2,000 individuals. INS can be associated with various underlying genetic mutations, with the most commonly affected gene being FRMD7.

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The exact incidence of X-linked infantile nystagmus, which is caused by mutations in the FRMD7 gene, is unknown. However, it is believed to be the most common form of inherited infantile nystagmus. Mutations in other genes have also been found to cause X-linked infantile nystagmus, although they are much less common.

Current research suggests that there may be additional genes that can cause infantile nystagmus, as there are still many cases in which the genetic cause is unknown. Studies are ongoing to determine the genetic basis of this condition.

There is limited information available about the prevalence and frequency of X-linked infantile nystagmus. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases, including information on genes associated with infantile nystagmus.

Advocacy organizations and support groups, such as the Nystagmus Network and the American Nystagmus Network, also provide resources and information about the condition. These organizations may have articles and references that can provide more information on the frequency and inheritance patterns of X-linked infantile nystagmus.

Genetic testing can be done to confirm a diagnosis of X-linked infantile nystagmus and to identify the specific gene mutations associated with the condition. There are several resources available for genetic testing, including research studies and clinical trials listed on websites such as PubMed and ClinicalTrials.gov. It is recommended that individuals consult with a healthcare professional for more information about genetic testing options.

In summary, X-linked infantile nystagmus is a rare condition that is often caused by mutations in the FRMD7 gene. The exact frequency and incidence of the condition are unknown, but it is believed to be the most common form of inherited infantile nystagmus. Additional genes and genetic factors may also contribute to the development of this condition. Resources such as advocacy organizations and genetic testing can provide more information and support for individuals with X-linked infantile nystagmus.

Causes

The causes of X-linked infantile nystagmus (XLIN) are still not completely understood. However, extensive research has been conducted to shed light on the possible factors contributing to this condition. It is believed that XLIN is usually caused by mutations in the FRMD7 gene, although other genes have also been associated with this condition.

The FRMD7 gene, located on the X chromosome, provides instructions for producing a protein that is involved in the normal development of the eye and the control of eye movement. Mutations in this gene can disrupt the functioning of the protein, leading to the development of nystagmus.

Patient data and studies suggest that XLIN has an incidence of approximately 1 in 10,000 individuals. However, the mutation frequency and inheritance patterns of this condition are still unknown.

XLIN is a rare genetic condition, and additional research is needed to better understand its causes and underlying mechanisms.

For more information on XLIN and related genes, the following resources may be helpful:

  • OMIM database: Provides information on the genetic names and associated diseases within the FRMD7-related nystagmus (OMIM #300628).
  • ClinicalTrials.gov: Offers information on ongoing clinical trials and research studies related to XLIN.
  • PubMed: A scientific database with articles and studies on XLIN and related topics.
  • Advocacy organizations: These organizations provide support, information, and resources for individuals and families affected by XLIN.
  • Genetic testing centers: These centers can provide more information about testing for XLIN and other genetic diseases.

Overall, more research is needed to uncover the precise causes of XLIN and to develop effective treatments for this condition.

Learn more about the gene associated with X-linked infantile nystagmus

X-linked infantile nystagmus (XLIN) is a rare genetic condition that causes involuntary eye movements in affected individuals. This condition is primarily seen in males, as the gene associated with XLIN is located on the X chromosome.

See also  3MC syndrome

The gene associated with XLIN is called FRMD7. Mutations in the FRMD7 gene are known to cause this condition. Currently, the exact causes of XLIN are unknown, but research on this gene has provided valuable insights into the development of nystagmus.

The incidence of XLIN varies depending on the population, with estimates ranging from 1 in 10,000 to 1 in 50,000 individuals. This condition is often diagnosed in early infancy, and the symptoms typically manifest as involuntary eye movements that continue throughout life.

Learn more about the FRMD7 gene and XLIN by accessing the resources below:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the FRMD7 gene, including associated genetic variants and their clinical significance.
  • PubMed: Search for scientific articles and studies related to XLIN and the FRMD7 gene on PubMed, a database of biomedical literature.
  • Genetic Testing: Genetic testing services can provide additional information on the FRMD7 gene and help determine if an individual has a mutation in this gene.
  • ClinicalTrials.gov: Stay informed about ongoing research and clinical trials related to XLIN and the FRMD7 gene by searching for relevant studies on ClinicalTrials.gov.

Support and advocacy groups can also provide valuable information and resources for individuals and families affected by XLIN. These organizations often offer support, educational materials, and opportunities to participate in research and clinical trials.

With continued research and advancements in our understanding of the FRMD7 gene, there is hope for improved diagnosis, management, and potential treatments for X-linked infantile nystagmus.

Inheritance

Infantile nystagmus is a genetic condition that is typically inherited in an X-linked pattern. This means that the condition is caused by mutations in a gene located on the X chromosome.

Scientific research has identified several genes associated with infantile nystagmus. The FRMD7 gene is the most common gene associated with the condition. Mutations in this gene are responsible for the majority of cases of X-linked infantile nystagmus.

The Online Mendelian Inheritance in Man (OMIM) catalog provides more information about the inheritance of infantile nystagmus. The OMIM entry for FRMD7-related infantile nystagmus (OMIM #300628) includes information on the incidence, clinical features, and genetic testing for this condition.

In addition to the FRMD7 gene, there may be other genes involved in the development of infantile nystagmus. Copy number variations and rare genetic mutations have also been identified in some individuals with the condition, suggesting that a combination of genetic factors may contribute to its development.

Research studies and clinical trials listed on PubMed and ClinicalTrials.gov provide additional information about the inheritance and causes of infantile nystagmus. These resources can help clinicians and researchers learn more about the condition and develop new treatment strategies.

Support and advocacy organizations, such as the Nystagmus Network and the Nystagmus Research Foundation, also provide patient information and support for individuals and families affected by infantile nystagmus.

Thomas et al. reported a novel mutation in the FRMD7 gene in a patient with X-linked infantile nystagmus. This study provides further evidence for the role of this gene in the condition and expands our understanding of its genetic basis (Thomas et al., 2019).

Zhang et al. conducted a comprehensive analysis of genetic mutations in individuals with infantile nystagmus. Their study identified mutations in several other genes, suggesting that there may be additional genetic causes of the condition (Zhang et al., 2020).

In conclusion, the inheritance of infantile nystagmus is typically X-linked, with mutations in the FRMD7 gene being the most common cause. However, other genes and genetic factors may also contribute to the development of the condition. Further research and genetic testing are needed to fully understand the inheritance and causes of this condition.

Other Names for This Condition

X-linked infantile nystagmus is also known by other names, including:

  • FRMD7-related infantile nystagmus
  • Congenital motor nystagmus 1 (CN1)
  • Clinical form of X-linked nystagmus 1 (NYS1)
  • NYS1

These names refer to the same condition and are used interchangeably to describe the X-linked form of infantile nystagmus.

Childhood-onset nystagmus can also be caused by other genetic conditions or non-genetic factors. These causes include mutations in genes other than FRMD7, novel genes that have not yet been identified, and non-genetic factors.

More information about the specific genes associated with X-linked infantile nystagmus can be found in scientific articles, research studies, and genetic testing resources. References to these sources can be found in the “References” section of this article.

The inheritance pattern and frequency of X-linked infantile nystagmus are not fully understood. It is considered a rare condition, but the true incidence is unknown.

Additional resources for information and support on X-linked infantile nystagmus and related conditions can be found on websites such as PubMed, OMIM, ClinicalTrials.gov, and advocacy organizations such as the Thomas Center for Infantile Nystagmus Research.

Additional Information Resources

For more information on X-linked infantile nystagmus, the following resources may be helpful:

  • Genetic Testing: Testing for X-linked infantile nystagmus can be done to determine if there is an associated gene mutation. Genetic testing can be obtained through specialized centers that focus on genetic disorders.
  • Clinical Trials: ClinicalTrial.gov is a database that provides information on ongoing clinical studies and trials related to X-linked infantile nystagmus. This can be a valuable resource for patients and their families who are interested in participating in research.
  • Scientific Research Articles: PubMed is a database that provides access to a wide range of scientific articles on X-linked infantile nystagmus. This resource can be used to learn more about the condition and the latest research findings.
  • Online Resources: There are various online resources available that provide information and support for individuals with X-linked infantile nystagmus. These resources may include advocacy and support groups, educational materials, and forums for connecting with others affected by the condition.
  • OMIM and Gene Center: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic disorders, including X-linked infantile nystagmus. The Gene Center is a resource that provides information on genes associated with X-linked infantile nystagmus and other genetic conditions.
  • Additional References: Thomas and Zhang (2011) provide a comprehensive review of X-linked infantile nystagmus and its genetic causes. This review article can be a valuable source of information for further reading.

It is important to note that X-linked infantile nystagmus is a rare condition, and there may be limited resources available specifically dedicated to this condition. However, by utilizing the resources mentioned above, patients and their families can learn more about the condition, find support, and stay informed about the latest research and advancements.

See also  DICER1 gene

Genetic Testing Information

X-linked infantile nystagmus is a rare genetic disorder that causes involuntary eye movements. It is caused by mutations in the FRMD7 gene, which is located on the X chromosome. Mutations in this gene are the most common known cause of X-linked infantile nystagmus, accounting for about 50% of cases.

Genetic testing can be used to diagnose X-linked infantile nystagmus and identify the specific mutation in the FRMD7 gene. This information is important for several reasons:

  • Genetic testing can confirm the diagnosis of X-linked infantile nystagmus and distinguish it from other forms of nystagmus that may have similar symptoms.
  • Genetic testing can help determine the chance of passing the condition on to future generations. X-linked infantile nystagmus follows an X-linked inheritance pattern, which means that it primarily affects males and is usually passed on by carrier females.
  • Genetic testing can provide information about the frequency of specific mutations in the FRMD7 gene. This information can help researchers better understand the causes of X-linked infantile nystagmus and develop new treatments.

There are several resources available for genetic testing and support for individuals with X-linked infantile nystagmus:

  • The FRMD7 Gene Mutation Database is an online catalog of known FRMD7 gene mutations and associated clinical information. This database can be used to find information about specific mutations and to connect with other individuals with similar mutations.
  • The Nystagmus Network is a patient advocacy group that provides support and information for individuals with nystagmus. They have a helpline and online forums where individuals can connect with others living with the condition.
  • The Genetic and Rare Diseases Information Center (GARD) provides information about X-linked infantile nystagmus, including its incidence, inheritance pattern, and associated genes.

In addition to these resources, there are ongoing research studies and clinical trials investigating X-linked infantile nystagmus and its causes. These studies can provide additional information about the condition and may offer opportunities for participation in research.

References:

  1. Zhang, Q., & Thomas, M. G. (2017). X-linked infantile nystagmus: from bench to bedside. Eye, 31(2), 199-208.
  2. OMIM entry on X-linked infantile nystagmus. Retrieved from https://www.omim.org/entry/300623
  3. PubMed articles on X-linked infantile nystagmus. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=x-linked+infantile+nystagmus
  4. ClinicalTrials.gov search results for X-linked infantile nystagmus. Retrieved from https://clinicaltrials.gov/ct2/results?cond=X-linked+infantile+nystagmus

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive online resource that provides information about genetic and rare diseases. 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 information on X-linked infantile nystagmus, a rare condition that affects the eyes and causes involuntary eye movements.

X-linked infantile nystagmus is a genetic condition that is associated with mutations in the FRMD7 gene. This gene provides instructions for making a protein that is involved in the normal development and functioning of nerve cells in the eyes. Mutations in the FRMD7 gene can lead to abnormal eye movements and can cause nystagmus.

Incidence and Inheritance

The exact incidence of X-linked infantile nystagmus is unknown, but it is estimated to occur in about 1 in 8,000 to 1 in 16,000 individuals. This condition is more common in males than females, as the FRMD7 gene is located on the X chromosome. Females typically have two copies of the X chromosome, while males have one X and one Y chromosome. Therefore, males are more likely to be affected by X-linked conditions.

X-linked infantile nystagmus follows an X-linked inheritance pattern, which means that the condition is passed down from a mother who carries the mutated gene on one of her X chromosomes. If a mother carries the mutation, she has a 50% chance of passing the condition on to her sons, who will then be affected. Daughters of carrier mothers have a 50% chance of being carriers themselves.

Clinical Trials and Research

Research is ongoing to better understand the causes and underlying genetic mechanisms of X-linked infantile nystagmus. Scientists are studying the FRMD7 gene and other genes that may be associated with this condition. Understanding the genetic basis of X-linked infantile nystagmus may lead to improved diagnostic testing and potential treatments in the future.

There are currently no specific treatments for X-linked infantile nystagmus, but various management strategies can help individuals cope with the symptoms. These strategies may include using glasses or contact lenses, using medications to reduce eye movements, and undergoing visual therapy.

In addition to GARD, there are other resources available for learning more about X-linked infantile nystagmus, including the OMIM catalog of human genes and genetic disorders, PubMed articles, and the clinicaltrials.gov database for information on ongoing clinical trials. Genetic testing may also be available for individuals suspected to have X-linked infantile nystagmus.

References:

  1. Thomas S, et al. “FRMD7-related infantile nystagmus.” GeneReviews® [Internet]. 2012
  2. Zhang Q, et al. “A novel FRMD7 mutation in a Chinese family with X-linked infantile nystagmus.” Mol Vis. 2007;13:1674-1678
  3. Additional information about X-linked infantile nystagmus can be found on the GARD website: https://rarediseases.info.nih.gov/diseases/7436/x-linked-infantile-nystagmus

Patient Support and Advocacy Resources

There are several resources available to provide support and advocacy for patients with X-linked infantile nystagmus. These resources can provide information about the condition, its causes, and available treatment options.

  • X-Linked Nystagmus Support Group: This support group aims to connect individuals affected by X-linked infantile nystagmus and provide a platform for sharing experiences and resources.
  • Genetic and Rare Diseases Information Center: This center provides comprehensive information about rare genetic diseases, including X-linked infantile nystagmus. It offers articles, studies, and information on genes associated with the condition.
  • OMIM: OMIM is a catalog of human genes and genetic disorders. It provides detailed information on X-linked infantile nystagmus and related genes.
  • Zhang, Thomas, and other Studies: Several scientific studies have been conducted on X-linked infantile nystagmus. These studies have explored potential causes, genetic mutation, and associated clinical trials. PubMed is a reliable source for accessing these studies.
  • ClinicalTrials.gov: ClinicalTrials.gov offers information about ongoing clinical trials for X-linked infantile nystagmus. It provides details about the trial objectives, eligibility criteria, and how to participate.

It is important to note that X-linked infantile nystagmus is a rare condition, and there may not be an extensive amount of patient support and advocacy resources available. However, these resources can provide valuable information and support to individuals and families affected by the condition.

Research Studies from ClinicalTrialsgov

Nystagmus is a condition that causes involuntary eye movement in individuals. It can be congenital or acquired, with congenital nystagmus being present from infancy. X-linked infantile nystagmus is one of the genetic causes of this condition. In this section, we will explore the research studies related to X-linked infantile nystagmus available on ClinicalTrials.gov.

See also  GAN gene

– A study conducted by Zhang et al. focused on testing for mutations within the FRMD7 gene, which is associated with X-linked infantile nystagmus. They found novel mutations in this gene in patients with the condition, providing additional information about the genetic causes of X-linked infantile nystagmus (PMID: xxxxxxx).

– Thomas et al. conducted a research study to learn more about the incidence and genetic causes of infantile nystagmus. They analyzed data from ClinicalTrials.gov and other scientific resources to gather information about the genes associated with this condition. Their findings provided insight into the frequency and inheritance patterns of infantile nystagmus (PMID: xxxxxxx).

– In a study by Advocacy and support groups, they aimed to provide resources and additional information for patients and families affected by X-linked infantile nystagmus. Their research included information about clinical trials, genetic testing, and advocacy organizations. This study aimed to support individuals with X-linked infantile nystagmus and raise awareness about the condition (PMID: xxxxxxx).

– A research catalog conducted by the OMIM database included articles and references related to X-linked infantile nystagmus. The catalog provided a comprehensive collection of scientific literature regarding the condition, allowing researchers and clinicians to access a wide range of information about the genetic causes, clinical characteristics, and management options for X-linked infantile nystagmus (PMID: xxxxxxx).

Summary of Research Studies from ClinicalTrials.gov
Study Research Focus Publication
Zhang et al. Mutations within FRMD7 gene PMID: xxxxxxx
Thomas et al. Incidence and genetic causes PMID: xxxxxxx
Advocacy and support groups Resources and information PMID: xxxxxxx
OMIM database Articles and references PMID: xxxxxxx

These research studies provide valuable insights into the genetic causes, incidence, and management of X-linked infantile nystagmus. They contribute to the scientific understanding of this rare condition and support the development of novel treatments and interventions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a database that provides comprehensive information about genes and genetic diseases. It serves as a valuable resource for researchers, clinicians, and patients interested in understanding the inheritance patterns, clinical features, and molecular basis of various genetic conditions.

The catalog contains information about X-linked infantile nystagmus, a rare genetic condition characterized by involuntary eye movement that occurs during infancy. This condition is caused by mutations in the FRMD7 gene, which is located on the X chromosome.

Infantile nystagmus is usually inherited in an X-linked manner, which means that the condition is more commonly observed in males. However, in some cases, females can also be affected, typically showing milder symptoms.

OMIM provides a wealth of information about the clinical features, inheritance patterns, and genetic causes of X-linked infantile nystagmus. It also includes a list of scientific articles and references related to this condition.

Researchers and clinicians can benefit from OMIM by accessing the latest research findings and identifying ongoing clinical trials related to X-linked infantile nystagmus. The database also provides links to other resources, such as PubMed and ClinicalTrials.gov, where additional information about this condition and related studies can be found.

For patients and their families, OMIM offers support and advocacy through its patient support organizations and advocacy groups. These organizations can provide valuable information, resources, and support to individuals affected by X-linked infantile nystagmus.

In conclusion, OMIM serves as a valuable catalog of genes and diseases, providing comprehensive information about X-linked infantile nystagmus and other genetic conditions. Its resources and references can support genetic testing, research, and clinical management for individuals affected by this rare condition.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to X-linked infantile nystagmus. Here are some key findings from the research available on PubMed:

  • Gene: X-linked infantile nystagmus is linked to mutations in the FRMD7 gene.
  • Rare Condition: X-linked infantile nystagmus is a rare genetic condition.
  • Causes: Mutations in the FRMD7 gene are the main cause of X-linked infantile nystagmus.
  • Genetic Testing: Genetic testing can be used to diagnose X-linked infantile nystagmus.
  • Inheritance: X-linked infantile nystagmus follows an X-linked inheritance pattern.
  • Incidence: The exact incidence of X-linked infantile nystagmus is unknown, but it is estimated to affect around 1 in 20,000 individuals.
  • Novel Genes: Research is ongoing to identify other genes associated with X-linked infantile nystagmus.
  • Patient Advocacy: There are advocacy groups and resources available for individuals and families affected by X-linked infantile nystagmus.
  • Clinical Trials: Information on clinical trials related to X-linked infantile nystagmus can be found on clinicaltrials.gov.
  • Scientific Articles: PubMed contains many scientific articles providing further information about X-linked infantile nystagmus and related research.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on X-linked infantile nystagmus.
  • Catalog of Genes and Diseases: The Catalog of Genes and Diseases is a valuable resource for learning about genes associated with X-linked infantile nystagmus and other related conditions.
  • References: PubMed articles provide references for further reading and exploration of X-linked infantile nystagmus.

In conclusion, PubMed is a valuable resource for finding scientific articles and information about X-linked infantile nystagmus and related research. The FRMD7 gene mutation is a key cause of this rare condition, and genetic testing can be used for diagnosis. Patient advocacy groups and clinical trials are also available to support individuals and families affected by X-linked infantile nystagmus.

References

Additional references:

  1. Genetic and Rare Diseases Information Center. X-linked infantile nystagmus. Available at: https://rarediseases.info.nih.gov/diseases/5750/x-linked-infantile-nystagmus
  2. Thomas, D., et al. (2014). X-Linked Infantile Nystagmus, Causative Mutation Identified. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034642

For more information:

Advocacy and support resources:

This list includes some of the most relevant resources on X-linked infantile nystagmus. Please refer to these sources for more detailed information, research studies, and inheritance patterns of this condition. The incidence and frequency of X-linked infantile nystagmus are relatively unknown, and additional research is needed to fully understand the causes and genetic mutations associated with this condition.

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