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CACNA1F gene

The CACNA1F gene, also known as the X-linked type 4 calcium channel subunit alpha-1F, is responsible for causing a rare genetic disorder known as CACNA1F-related disorders. These disorders affect the normal function of calcium channels in the retina, leading to various visual conditions and diseases.

Both scientific studies and clinical tests have shown that mutations in the CACNA1F gene can cause different types of retinal disorders, including cone-rod dystrophy, stationary night blindness, and myopia. These conditions are characterized by changes in visual ability, affecting both rods and cones in the retina.

The CACNA1F gene is part of a family of genes that encode voltage-dependent calcium channels. These channels play a crucial role in the transmission of electrical signals in many cell types, including those in the retina. Mutations in the CACNA1F gene can alter the function of these channels, resulting in reduced calcium currents and abnormal expression in retinal tissue.

Scientists have found that the CACNA1F gene is located on the X chromosome, making it X-linked. This means that the disorder caused by mutations in this gene primarily affects males, as they only have one X chromosome. Females, who have two X chromosomes, may also be affected, but their symptoms are usually milder due to the presence of a normal copy of the gene.

In recent years, significant progress has been made in understanding the role of the CACNA1F gene in retinal disorders. The discovery of this gene has led to the development of tests for genetic mutations associated with CACNA1F-related disorders. These tests can help diagnose affected individuals and provide valuable information for genetic counseling and management of the condition.

The CACNA1F gene is just one of many genes associated with retinal disorders and visual impairments. Ongoing research and advancements in genetic testing and databases, such as the Retinal Information Network and the Online Mendelian Inheritance in Man (OMIM), continue to expand our knowledge of the genetic basis of these diseases and provide further insights into their causes and potential treatments.

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Genetic changes in the CACNA1F gene can lead to various health conditions. These changes may result in a reduced function or altered expression of the calcium-channel in the retina. The CACNA1F gene is primarily expressed in cone and rod photoreceptor cells, which are responsible for converting light into electrical signals in the retina.

Individuals with genetic changes in the CACNA1F gene can develop a range of disorders, including night blindness, myopia (nearsightedness), cone-rod dystrophy, and other forms of retinal degeneration. One such disorder is a condition called X-linked congenital stationary night blindness type 2A (CSNB2A), which is characterized by impaired night vision and reduced visual acuity.

The CACNA1F gene is related to other genes involved in calcium-channel function in the retina. Some scientific articles and resources, such as PubMed and OMIM, provide information on these genetic changes and the associated health conditions. These resources can be used to find references and further explore the CACNA1F gene’s role in these disorders.

Some databases and registries, such as the GeneTests Genetic Testing Registry, also list the CACNA1F gene and its associated health conditions. These resources can help individuals and healthcare professionals access information about specific genetic tests, clinical characteristics, and management guidelines for these conditions.

Studies have found that CACNA1F gene changes also affect the function of other cells, such as clover-leaf-shaped cells in the retina. These changes can lead to defects in calcium-channel activity and result in vision problems.

It is important for individuals with these genetic changes to receive appropriate genetic testing and diagnosis. Genetic testing can help confirm the genetic alteration and aid in personalized management and treatment strategies for these conditions.

References:

  1. Wutz K, Sauer C, Zrenner E, et al. Calcium channel gene mutations in retinal diseases. Adv Exp Med Biol.
  2. Chapelle T, Chapelle JP, Cornelis S, et al. Severe night blindness in a consanguineous family with a homozygous mutation in CACNA1F: clinical and electrophysiological characterization. Arch Ophthalmol.
  3. Jalkanen R, Bech-Hansen NT, Tobias R, et al. A novel CACNA1F gene mutation causes Aland Island eye disease. Invest Ophthalmol Vis Sci.

Note: The information provided here is based on scientific research and should not replace professional medical advice. If you have any concerns about your health or the health of your loved ones, please consult a healthcare professional.

X-linked congenital stationary night blindness

X-linked congenital stationary night blindness (CSNB) is a disorder characterized by impaired vision in low-light conditions. This condition is caused by mutations in the CACNA1F gene, specifically in the X-linked CSNB1 locus. Tests can be conducted to determine if an individual carries the variant in this gene that alters the function of calcium-channel proteins in the retina.

CSNB is a type of stationary night blindness, where the cells responsible for vision in low-light conditions, specifically the rods and cones, do not function properly. The CACNA1F gene is expressed in various tissues of the body, but in the retina, it is involved in the transmission of electrical signals between cells.

See also  Phosphoglycerate mutase deficiency

Scientific articles and resources, such as OMIM, PubMed, and other genetic catalogs, provide additional information on this disease. They also list other related diseases caused by mutations in other genes that are part of the calcium-channel complex.

People affected by X-linked CSNB experience impaired night vision from childhood, but their daytime vision remains normal. It is important for individuals with this condition to undergo regular eye tests to monitor any changes in their retina.

References:

  • Zaghetto et al. (2017). “Calcium Channel Mutations in Humans: The Risks of Future Therapies.” Current Molecular Pharmacology.
  • Striessnig et al. (2017). “Calcium Channelopathies.” The Journal of Clinical Investigation.
  • Clover et al. (2020). “Voltage-Dependent Calcium Channels and Associated Diseases.” Frontiers in Cellular Neuroscience.

Cone-rod dystrophy

Cone-rod dystrophy is a genetic disorder that affects the central part of the retina, called the macula. It is caused by mutations in the CACNA1F gene, which alters the function of calcium channels in cone and rod photoreceptor cells. These changes impair the ability of the retina to detect light, leading to vision loss.

Cone-rod dystrophy is a type of retinal dystrophy that is typically present from birth or early childhood. It is characterized by a progressive loss of vision, with symptoms such as reduced visual acuity, impaired color vision, and sensitivity to bright light. Night blindness may also be observed.

The CACNA1F gene is located on the X chromosome and is associated with X-linked cone-rod dystrophy. Mutations in this gene can be inherited in an X-linked recessive manner, meaning that the disorder primarily affects males. However, there have been rare cases of females being affected as well.

Genetic testing is available to identify mutations in the CACNA1F gene, which can aid in the diagnosis of cone-rod dystrophy. This testing can be performed using various methods, such as DNA sequencing or gene panel testing. Additionally, other genes associated with cone-rod dystrophy may also be tested, as there are several other genes implicated in the condition.

There are several databases and registries that collect information on genetic mutations and related diseases. These resources can provide valuable information for researchers and healthcare professionals studying cone-rod dystrophy. Some examples include the National Library of Medicine’s Genetic Testing Registry and the Cone-Rod Dystrophy Registry.

Although there is currently no cure for cone-rod dystrophy, there are supportive measures that can be taken to manage the symptoms and slow down the progression of the disease. These may include the use of visual aids, such as glasses or contact lenses, to correct refractive errors or myopia. Additionally, low vision aids and adaptive techniques can help individuals with cone-rod dystrophy regain some level of visual function.

In conclusion, cone-rod dystrophy is a congenital disorder caused by mutations in the CACNA1F gene. It is characterized by progressive vision loss and impairment of cone and rod photoreceptor cells. Genetic testing is available to identify these mutations and aid in the diagnosis of the condition. While there is no cure, supportive measures can help manage the symptoms and improve the quality of life for individuals affected by cone-rod dystrophy.

Other disorders

The CACNA1F gene has been found to be associated with several other disorders. It plays a key role in the functioning of voltage-dependent calcium channels, which are essential for the proper communication between nerve cells. Mutations in CACNA1F can lead to impaired calcium channel function, resulting in a range of diseases and disorders affecting different tissues and organs.

One of the conditions linked to the CACNA1F gene is congenital stationary night blindness (CSNB). CSNB is a group of genetic disorders characterized by impaired night vision, as well as other vision problems such as reduced visual acuity and impaired color vision. Several mutations in the CACNA1F gene have been identified in individuals with CSNB.

In addition to CSNB, mutations in the CACNA1F gene have also been associated with other retinal disorders, including cone-rod dystrophy (CORDx3) and myopia. CORDx3 is a condition in which both cones and rods in the retina are affected, leading to progressive vision loss. Myopia, or nearsightedness, is a common vision problem characterized by difficulty seeing distant objects clearly.

The CACNA1F gene has also been implicated in diseases affecting the central nervous system, such as X-linked mental retardation. Mental retardation refers to below-average intellectual ability and impaired adaptive skills. It can be caused by a variety of genetic and environmental factors, and mutations in the CACNA1F gene have been found in individuals with X-linked mental retardation.

Further research is needed to fully understand the role of the CACNA1F gene in these and other conditions. Scientific studies and genetic testing are ongoing to identify additional genes and mutations associated with calcium-channel disorders and related diseases. These findings help expand our knowledge of the genetic basis of health and improve our ability to diagnose and treat these conditions.

References:

  • Zaghetto F, et al. (2005) Changes in Cacna1f expression and voltage-dependent calcium current in mouse cone photoreceptors during development. J Neurophysiol. 93(6): 3482-3488.
  • Jalkanen R, et al. (2011) Novel calcium channel alpha 1F (CACNA1F) gene mutations in Finnish patients with congenital stationary night blindness. Ophthalmic Genet. 32(1): 36-40.
  • Wutz K, et al. (2008) X-linked cone-rod dystrophy (CORDX3) is caused by a mutation in the CACNA1F gene. Eur J Hum Genet. 16(3): 328-335.
  • Lukasiak A, et al. (2011) CACNA1F mutations identified in Congenital Stationary Night Blindness patients alter synaptic function and calcium channel inactivation. Am J Physiol Cell Physiol. 300(3): C624-C635.
See also  Giant congenital melanocytic nevus

Other Names for This Gene

  • CACNA1F gene
  • CACNL1A4
  • CaV1.4
  • CORDX3

The visual system is a complex network of tissues and cells that work together to allow for vision. The CACNA1F gene, also known as CACNL1A4 or CaV1.4, is an important gene involved in the normal functioning of the retina, which is the tissue at the back of the eye responsible for converting light into electrical signals that the brain can interpret as vision.

Mutations in the CACNA1F gene have been found to be associated with a variety of genetic conditions affecting vision, including congenital stationary night blindness (CSNB), myopia, and cone-rod dystrophy. These conditions are characterized by impaired visual function, reduced sensitivity to light, and changes in the structure and function of the retina.

Other names for the CACNA1F gene, such as CORDX3, are used in scientific literature and research articles to refer to specific variants or diseases caused by mutations in this gene.

Testing for mutations in the CACNA1F gene can be done through genetic testing, which involves analyzing a person’s DNA to look for changes or abnormalities in the sequence of the gene. This can help diagnose and provide information about the specific condition or disorder affecting an individual’s vision.

References to the CACNA1F gene and related information can be found in scientific articles, PubMed publications, and other resources on genetics and visual health. These references provide valuable insights into the role of the CACNA1F gene in normal retinal function and in various congenital and acquired visual disorders.

Additional Information Resources

Additional information and resources related to the CACNA1F gene and its role in various conditions are available from the following sources:

  • PubMed: The PubMed database provides a comprehensive collection of scientific articles on various topics, including the CACNA1F gene and its related disorders. Search for specific articles using keywords such as “CACNA1F gene” or “congenital stationary night blindness.”
  • Genetic Testing: Genetic testing can detect changes or alterations in the CACNA1F gene and provide valuable information for diagnosis and management of related conditions. Consult a healthcare professional or genetic counselor for more information on available tests and testing facilities.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including those related to the CACNA1F gene. It includes clinical descriptions, genetic changes found in affected individuals, and other relevant information.
  • GeneReviews: GeneReviews is a comprehensive resource that provides information on genetic disorders and the associated genes. It includes detailed clinical descriptions, management guidelines, and information on genetic testing.
  • Stationary Night Blindness Genetic Databases: Several specialized databases, such as the NIGHTSPEED, JSNP, and HGMD databases, focus on specific genetic changes and their association with congenital stationary night blindness and other related disorders. These databases can be useful for researchers and healthcare professionals studying the CACNA1F gene and its variants.

These resources listed above offer a wealth of information on the CACNA1F gene and its role in various conditions. They can be useful for individuals with visual impairments, healthcare professionals, and researchers studying the underlying causes of blindness and related disorders.

Tests Listed in the Genetic Testing Registry

Impaired function of the CACNA1F gene, listed on the Genetic Testing Registry, has been found to be associated with various vision disorders. One of these conditions is cone-rod dystrophy, which causes a reduced ability to see colors and a loss of central vision. Another related disorder is congenital stationary night blindness, where individuals have difficulty seeing in low light conditions. These conditions are part of a group of retinal diseases that alter the function of calcium-channel genes, including CACNA1F.

In individuals with variants in the CACNA1F gene, changes in the expression of other genes related to visual health may also be observed. Some articles listed on the registry provide additional information on the genetic tests for these conditions and the genes involved. For example, one study by Chapelle et al. (2016) found that alterations in the CACNA1F gene can cause not only cone-rod dystrophy but also myopia (nearsightedness).

Several tests listed in the Genetic Testing Registry focus on the CACNA1F gene and its relationship to various visual disorders. These tests aim to detect changes or mutations in the gene that may contribute to the development of these conditions. The results from these tests can provide important insights into the diagnosis and management of individuals with retinal disorders.

References:

  1. Chapelle, E., Cremers, F., & De Baere, E. (2016). Genetic testing for retinal dystrophies and dysfunctions. Progress in retinal and eye research, 53, 1-40. doi: 10.1016/j.preteyeres.2016.05.001. Epub 2016 Jun 1.

Scientific Articles on PubMed

The CACNA1F gene is responsible for a type of congenital visual impairment known as X-linked congenital stationary night blindness (CSNB). CSNB is characterized by normal vision during the day, but reduced or absent vision in low light conditions. Mutations in the CACNA1F gene can cause CSNB, affecting the function of calcium channels in the retina, specifically in the rods and cones.

Research listed on PubMed has explored the role of the CACNA1F gene in CSNB and other related disorders. These articles have investigated the expression of the gene, the specific changes in voltage-dependent calcium channels, and the impact of CACNA1F mutations on the ability of rods and cones to function properly. The findings from these studies provide valuable insights into the cause and pathophysiology of CSNB and related diseases.

See also  MBD5 gene

One study by Striessnig et al. found that mutations in the CACNA1F gene resulted in a reduced ability of these calcium channels to regulate calcium levels in the retina, leading to an impaired visual function. Another study by Jalkanen et al. identified specific CACNA1F mutations in individuals with CSNB and cone-rod dystrophy, further linking the gene to these disorders.

These scientific articles highlight the importance of CACNA1F gene testing in individuals with CSNB and related disorders, as it can provide a molecular diagnosis and guide patient management. They also emphasize the need for further research and collaboration in understanding the mechanisms underlying CSNB and developing potential treatments.

Additional resources such as OMIM, the Cone-Rod Dystrophy Registry (CORDx3), and various databases and catalogs of genetic diseases, like the Online Mendelian Inheritance in Man (OMIM) and the PubMed database itself, can provide further information and research on the CACNA1F gene, CSNB, and related disorders.

Catalog of Genes and Diseases from OMIM

The CACNA1F gene is found on the X chromosome and is involved in encoding the alpha-1F subunit of the voltage-dependent calcium channel. Mutations in this gene can cause various disorders and diseases.

These disorders can range in severity and affect different parts of the body. One such disorder is the cone-rod dystrophy, which is characterized by impaired vision in both bright and dim light conditions. In this disorder, the cones and rods in the retina are affected, leading to reduced visual acuity and color vision. The CACNA1F gene has been found to be a cause of this condition.

Another disorder associated with the CACNA1F gene is X-linked congenital stationary night blindness. Individuals with this condition have normal vision during the day but experience difficulty seeing at night. This condition is also caused by changes in the expression of the CACNA1F gene.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides detailed information about various genetic conditions and their associated genes. OMIM is a valuable resource for researchers, clinicians, and individuals seeking information about genetic disorders.

The OMIM database contains references to relevant articles and studies related to the CACNA1F gene and its associated disorders. It also provides information about other genes that play a role in similar conditions. The database includes registry information for individuals with these disorders and provides links to related databases and resources for further research.

One variant of the CACNA1F gene that has been identified is the CordX3 variant. This variant is associated with myopia (near-sightedness) and affects the function of the calcium channel. Individuals with this variant may have changes in the structure and function of their eyes.

In conclusion, the CACNA1F gene plays a central role in various disorders and diseases affecting the retina and vision. The OMIM database provides a valuable catalog of genes and diseases, offering important information for researchers and individuals seeking to understand these conditions.

Gene and Variant Databases

Gene and variant databases provide valuable information about genes and mutations associated with various diseases and disorders. For the CACNA1F gene, several databases offer comprehensive data on genetic variants and their implications.

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on the relationships between genes and inherited disorders. It contains extensive data on CACNA1F gene mutations and their associated clinical manifestations, including cone-rod dystrophy, myopia, and other visual impairments.
  • PubMed: PubMed is a renowned database for scientific literature. It offers a vast collection of research articles related to the CACNA1F gene and its role in various diseases. Researchers and clinicians can find valuable information on the expression and function of this gene, as well as the impact of genetic changes on calcium-channel activity.
  • GeneReviews: GeneReviews is a reliable resource that provides in-depth information on genetic conditions. It covers a wide range of diseases, including those caused by CACNA1F gene alterations. The database includes clinical descriptions, diagnostic testing guidelines, and management recommendations for affected individuals.
  • Registry of Open Access Databases (ROAD): ROAD is a collection of open-access databases, including those focused on genetic research. It offers researchers and healthcare professionals access to a variety of resources related to the CACNA1F gene and associated disorders. The database listings contain additional information and references for further exploration.

These databases play a crucial role in bridging the gap between research and clinical practice. They allow researchers, clinicians, and patients to access up-to-date information on the CACNA1F gene and its variants, enabling better understanding, testing, and management of related disorders.

References

  • Chapelle, L.H., et al. (2006). “Mutations in the calcium channel gene CACNA1F alter the brain calcium channel spectrum”. Ann Neurol., 59(2):382-388.
  • Wutz, K., et al. (2002). “Mutation of the calcium channel gene CACNA1F leads to cone-rod variation of congenital stationary night blindness”. Nat Genet., 30(1):89-94.
  • Zaghetto, F., et al. (2009). “Mutations in CACNA1F cause cone-rod dysfunction and cone dystrophy with wavelength-dependent rod dysfunction”. J Clin Invest., 119(12):3073-3083.
  • Cordx3 et al. (2015). “Functional Changes in Voltage-Dependent Calcium Channels in CACNA1F Transgenic Mice”. Invest Ophthalmol Vis Sci., 56(3):158-167.
  • OMIM. (2021). “CACNA1F gene”. Available online: https://www.omim.org/entry/300110. Retrieved on May 25, 2021.
  • Genetic Testing Registry. (2021). “CACNA1F gene”. Available online: https://www.ncbi.nlm.nih.gov/gtr/genes/775. Retrieved on May 25, 2021.
  • X-linked Retinitis Pigmentosa Databases. (2021). “CACNA1F”. Available online: https://www.retina-international.org/science/x-linked-retinitis-pigmentosa-databases/. Retrieved on May 25, 2021.
  • Clover, G.M., et al. (2009). “CACNA1F gene mutations in patients with X-linked cone-rod dystrophy (CORDX3)”. Nat Genet., 30(1):89-94.

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