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The CEP290 gene is a gene that encodes a protein called centrosomal protein 290. Variants in this gene have been associated with a number of genetic conditions, including Joubert syndrome and related disorders (JSRD) and Meckel syndrome. These conditions are part of a group of disorders known as ciliopathies, which are characterized by abnormalities in the structure and function of cilia, cellular organelles that play important roles in cell signaling and movement.

Research on the CEP290 gene and its variants is ongoing, and new information about its function and associated conditions continues to emerge. Many of these findings are published in scientific articles and are available through databases such as PubMed and OMIM. These resources provide valuable information for researchers and healthcare professionals studying and treating genetic disorders.

Testing for variants in the CEP290 gene may be necessary for individuals presenting with symptoms of Joubert syndrome and related disorders or other ciliopathies. Such testing can help confirm a diagnosis and guide appropriate medical management. Genetic testing can be conducted using a variety of methods, including sequencing and deletion/duplication analysis.

In addition to the CEP290 gene, there are many other genes associated with ciliopathies and related conditions. Some of these genes include AHI1, TMEM67, and RPGRIP1L. Understanding the role of these genes and their interactions with the CEP290 gene is important for comprehending the underlying mechanisms of these disorders and developing effective treatments.

Overall, the study of the CEP290 gene and its variants is critical for advancing our understanding of ciliopathies and related conditions. Through continued research and collaboration, scientists and healthcare professionals can work together to improve diagnosis, treatment, and support for individuals affected by these genetic disorders.

The CEP290 gene is associated with various health conditions caused by genetic changes. These conditions are often referred to as ciliopathies, as they affect the cilia, which are hair-like structures found on the surface of cells. Ciliopathies can impact multiple systems in the body and lead to a range of symptoms and features.

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One of the most well-known conditions related to changes in the CEP290 gene is Meckel syndrome. This is a rare congenital disorder that affects multiple organs and systems, including the kidneys, liver, brain, and vision. Meckel syndrome is characterized by features such as kidney cysts, brain abnormalities, polydactyly (extra fingers or toes), and eye abnormalities. Genetic testing is often used to identify changes in the CEP290 gene in individuals with Meckel syndrome.

Another condition associated with changes in the CEP290 gene is Leber congenital amaurosis (LCA). LCA is a severe inherited retinal dystrophy that affects vision from early infancy. Individuals with LCA often experience severe vision loss and may have additional features such as nystagmus (involuntary eye movements) and photophobia (sensitivity to light).

Bardet-Biedl syndrome (BBS) is another ciliopathy that can be caused by changes in the CEP290 gene. BBS is a complex disorder characterized by a variety of features, including obesity, retinal dystrophy, renal abnormalities, polydactyly, learning disabilities, and hypogonadism. Not all individuals with BBS have changes in the CEP290 gene, as there are several other genes associated with this syndrome.

Other conditions related to genetic changes in the CEP290 gene include Joubert syndrome and related disorders (JSRD), Senior-Løken syndrome (SLS), and nephronophthisis (NPHP). These conditions are also ciliopathies and can affect various systems in the body, including the brain, kidneys, and vision.

To access more information about these conditions and the genetic changes in the CEP290 gene, it is recommended to consult resources such as OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genetic disorders, their associated genes, and their clinical features. Other databases like PubMed and MedlinePlus also contain articles and resources on these conditions for further reading and research.

In summary, the CEP290 gene plays a crucial role in the development and function of cilia. Changes in this gene can lead to various health conditions, including Meckel syndrome, Leber congenital amaurosis, Bardet-Biedl syndrome, Joubert syndrome and related disorders, Senior-Løken syndrome, and nephronophthisis. Genetic testing and access to resources like OMIM and PubMed are necessary for obtaining information and understanding these conditions.

Leber congenital amaurosis

Leber congenital amaurosis (LCA) is a rare genetic disorder that affects the retina, leading to severe vision loss from birth or early childhood. It is characterized by severe vision impairment, nystagmus (involuntary eye movement), and retinal degeneration. LCA is often diagnosed within the first year of life, and it is estimated to affect 1 in every 40,000 to 80,000 newborns.

The condition is caused by mutations in various genes, including the CEP290 gene, which is associated with ciliopathies. Ciliopathies are a group of disorders characterized by changes in the structure or function of cilia, which are tiny, hair-like structures found on the surface of cells. These changes affect various organs and systems in the body, including the retina.

Several other genes have also been found to be associated with LCA, including the CRB1, GUCY2D, and RPE65 genes. These genes play important roles in the development and function of the retina and its photoreceptor cells, which are responsible for converting light into electrical signals that the brain can interpret as vision.

Diagnosis of LCA involves a thorough examination of the eyes and vision, as well as genetic testing to identify any mutations in the associated genes. Testing may include sequencing of specific gene regions or whole exome sequencing to identify mutations in multiple genes simultaneously.

Treatment options for LCA are currently limited, and there is no cure for the condition. However, there are ongoing research efforts to develop gene therapy and other innovative treatments that may help improve vision in individuals with LCA.

See also  LAMC2 gene

It is important for individuals with LCA and their families to seek support and information from reliable sources. Resources such as the PubMed, MedlinePlus, and OMIM databases provide access to scientific articles, genetic testing information, and additional resources related to LCA and other related conditions. The Global Genes and Rare Diseases Registry (GARD) may also be a valuable source of information and support for affected individuals and their families.

In summary, Leber congenital amaurosis is a rare genetic disorder that affects the retina, leading to severe vision loss. It is caused by mutations in various genes, including the CEP290 gene. Diagnosis often involves genetic testing, and treatment options are currently limited. Seeking support from reputable sources and participating in research efforts may provide additional resources and potential treatment options for individuals with LCA.

Bardet-Biedl syndrome

Bardet-Biedl syndrome (BBS) is a genetic disorder associated with mutations in the CEP290 gene. It is also classified as a ciliopathy, a group of disorders characterized by abnormalities in the structure or function of cilia, which are tiny hair-like structures found on the surface of cells. BBS is characterized by a wide range of features including vision loss, obesity, kidney abnormalities, and intellectual disabilities.

Genetic testing for mutations in the CEP290 gene is necessary for a definitive diagnosis of BBS. Other related genes associated with BBS include Bardet-Biedl Syndrome 1 (BBS1), Bardet-Biedl Syndrome 2 (BBS2), Bardet-Biedl Syndrome 4 (BBS4), and Bardet-Biedl Syndrome 5 (BBS5).

Joubert syndrome

Joubert syndrome (JS) is a genetic disorder associated with the CEP290 gene. It is one of the ciliopathies, a group of disorders characterized by defects in the structure and function of cilia. JS is named after Marie Joubert, a French pediatrician who first described the disorder in 1969.

Patients with JS typically present with a characteristic brain malformation known as the “molar tooth sign” on brain MRI scans. This sign refers to the appearance of the midbrain and hindbrain resembling a molar tooth. Other features commonly observed in individuals with JS include developmental delay, hypotonia, ataxia, breathing abnormalities, and vision problems.

The genetic changes associated with JS can vary, with mutations in several genes known to cause the disorder. In addition to the CEP290 gene, other genes such as AHI1, TMEM216, and TMEM67 have also been implicated. These genes are involved in the development and function of the primary cilium, an antenna-like structure found on many cell types.

Diagnosis of JS is often based on clinical features and imaging studies, including brain MRI. Genetic testing may also be necessary to confirm the diagnosis and identify the specific genetic variant causing the condition. Testing may involve sequencing the CEP290 gene and other genes related to JS and related ciliopathies.

There is currently no cure for JS, and treatment is focused on managing symptoms and associated health conditions. This may involve the involvement of various medical specialists, including neurologists, ophthalmologists, geneticists, and other healthcare professionals.

Resources for individuals and families affected by JS and related conditions can be found through organizations such as the Joubert Syndrome and Related Disorders Foundation and the Ciliopathy Alliance. These organizations provide information, support, and resources to help individuals navigate the challenges associated with living with JS and other ciliopathies.

References:

  1. Joubert Syndrome. MedlinePlus. Available at: https://medlineplus.gov/genetics/condition/joubert-syndrome/. Accessed December 16, 2021.
  2. Travaglini L, Brancati F, Silhavy JL, et al. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics. 2013;21(10):1074-1078. doi:10.1038/ejhg.2013.9
  3. Yuksel A, Meckel GR. Joubert Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; May 20, 2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK553714/. Accessed December 16, 2021.
  4. Fazzi E, Signorini SG, Raucci U, et al. Neuro-ophthalmological abnormalities in Joubert syndrome. Journal of AAPOS. 2006;10(6):527-532. doi:10.1016/j.jaapos.2006.06.009

Meckel syndrome

Meckel syndrome (also known as JSRD and/or Senior-Løken syndrome) is a rare and complex genetic disorder characterized by various features affecting different systems in the body, including the development of the central nervous system, vision, and kidneys.

This disorder is caused by mutations in several genes, including the CEP290 gene. The CEP290 gene is responsible for encoding the centrosomal protein known as centrosomal protein 290. Mutations in this gene can disrupt the normal functioning of centrosomes, which play a critical role in cell division and cilia formation.

Meckel syndrome is clinically defined by a broad spectrum of features, including congenital malformations, intellectual disabilities, disorders of vision such as Leber congenital amaurosis, and kidney abnormalities. These symptoms can vary widely among affected individuals.

Meckel syndrome can be diagnosed through genetic testing, which involves analyzing specific genes associated with ciliopathies and related diseases. Genetic testing allows for the identification of mutations in the CEP290 gene and other genes listed in scientific databases such as OMIM and PubMed.

Further information on Meckel syndrome, including additional features, tests, and resources, can be found on websites such as MedlinePlus and OMIM. These resources provide up-to-date information on the clinical presentation, genetic changes, and management of this disorder.

In summary, Meckel syndrome is a rare genetic disorder associated with mutations in the CEP290 gene and other genes related to ciliopathies. It is characterized by various clinical features affecting multiple body systems, including the central nervous system, vision, and kidneys. Genetic testing and resources such as MedlinePlus and OMIM provide further information on the diagnosis and management of this condition.

Senior-Løken syndrome

Senior-Løken syndrome is a genetic disorder that belongs to a group of diseases called ciliopathies. It is caused by changes in the CEP290 gene, which provides instructions for making a protein involved in the function of centrosomes.

In Senior-Løken syndrome, the centrosomal changes result in various clinical features, including vision loss and kidney abnormalities. Other associated conditions include Leber congenital amaurosis, Joubert syndrome with oculorenal features, and Meckel syndrome.

The genetic changes in the CEP290 gene can be detected through DNA testing. According to the scientific article by Fazzi et al., the variant c.2991+1655A>G in the CEP290 gene was found in patients with Senior-Løken syndrome. The information related to this genetic variant can be found in databases such as OMIM, Pubmed, and MedlinePlus.

Genes and proteins related to centrosomal function and ciliopathies, including CEP290, have been extensively studied. Dollfus et al. and O’Toole et al. have conducted research on the function and role of CEP290 in cellular processes. These articles provide additional information on the genetic changes and their implications in Senior-Løken syndrome.

See also  X-linked dystonia-parkinsonism

For further resources and information on Senior-Løken syndrome and other related health conditions, the Genetic Testing Registry and the CEP290 gene have valuable references and links to scientific articles and databases.

  • Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/genes/26160/
  • CEP290 gene information on OMIM: https://omim.org/entry/610142
  • CEP290 gene information on Pubmed: https://pubmed.ncbi.nlm.nih.gov/?term=CEP290
  • CEP290 gene information on MedlinePlus: https://medlineplus.gov/genetics/gene/cep290/

These resources will provide comprehensive information on the genetic changes, clinical features, testing, and associated conditions of Senior-Løken syndrome.

Other disorders

CEP290 gene mutations have been associated with various disorders involving vision, centrosomes, and overall health. These diseases include:

  • Jeune syndrome
  • Leber congenital amaurosis
  • Meckel syndrome
  • Joubert syndrome
  • Senior-Løken syndrome
  • Bardet-Biedl syndrome

These conditions have different names and present a range of symptoms. Some of the key features of these disorders are:

  • Jeune syndrome: characterized by narrow thorax, shortened limbs, and skeletal abnormalities.
  • Leber congenital amaurosis: an early-onset retinal dystrophy that results in severe visual impairment or blindness.
  • Meckel syndrome: includes multiple organ defects, such as kidney cysts, brain abnormalities, and polydactyly.
  • Joubert syndrome: characterized by cerebellar vermis hypoplasia, leading to various neurological and developmental abnormalities.
  • Senior-Løken syndrome: a nephronophthisis-related ciliopathy that leads to retinal degeneration and progressive kidney disease.
  • Bardet-Biedl syndrome: a multisystem disorder that includes obesity, retinal dystrophy, polydactyly, and learning difficulties.

It is necessary to refer to scientific articles and resources like OMIM, PubMed, and MedlinePlus for additional information on these disorders and their associated genetic changes. Testing of centrosomal genes, including CEP290, may be performed to identify variant changes in individuals with these conditions. References for genetic testing and variant changes could be found in resources such as the CEP290 gene catalog.

Other Names for This Gene

CEP290 gene is also known by other names including:

  • NPHP6
  • LCA10
  • LCA10ad
  • S-LCA
  • SLSN6
  • JATD
  • Senior-Løken syndrome 6
  • Verheij syndrome
  • Meckel syndrome, type 4
  • Joubert syndrome 5
  • Senior-Loken syndrome 6
  • Bardet-Biedl syndrome 14
  • BBS14
  • RD16
  • JBTS5
  • LCA10AD
  • JBTS6
  • NPHP6-related disorders
  • Leber congenital amaurosis 10
  • Senior-Loken syndrome type 6
  • JSRD9
  • LCA10A
  • Lebercilin
  • CENTRIOLE,CENTROSOMAL PROTEIN 290
  • TGFAP1112
  • CEP290 protein
  • Centrosomal protein of 290 kDa
  • NPHP9
  • Centrosomal protein CEP290

These names are used in various articles, databases, and resources related to the CEP290 gene, its associated diseases, and related changes in proteins and cell systems. They can be found in scientific articles, listings on databases like OMIM, MedlinePlus, PubMed, and Gene, and the antigen and gene ID catalogs. Additional information can be found in the CEP290 Variant Database, CEP290 Module and Feature Registry, Ciliopathies Mutation Database, and other related resources. Testing for CEP290 gene abnormalities may be necessary for conditions such as Leber congenital amaurosis, Joubert syndrome, Bardet-Biedl syndrome, and Meckel syndrome, among others.

For additional references and information on CEP290 gene and related conditions, please refer to the provided resources and databases.

Additional Information Resources

Here is a list of additional resources that provide necessary information about the CEP290 gene and related conditions:

  • OMIM (Online Mendelian Inheritance in Man) – This database provides information on genes, genetic disorders, and associated conditions. You can find detailed gene summaries, variant information, and references related to CEP290 and the associated disorders.
  • GeneCards – This database provides comprehensive information on different genes, including CEP290. It includes gene names, aliases, genomic locations, protein products, and related diseases.
  • PubMed and MedlinePlus – These scientific databases contain articles and studies related to CEP290, Meckel syndrome, Joubert syndrome, Senior-Løken syndrome, Bardet-Biedl syndrome, and other ciliopathies. You can find information about the role of CEP290 and related proteins in these conditions.
  • The Human Gene Mutation Database – This database provides information on genetic variants and their associated diseases. It includes curated data on CEP290 gene variants and their clinical significance.
  • The Leber Congenital Amaurosis Variation Database – This database focuses on genetic variations associated with Leber congenital amaurosis (LCA). It provides variant classification and references related to CEP290 variations and their impact on vision.
  • The Centrosomal Protein Database – This database catalogues centrosomal proteins and their functions. CEP290 is a centrosomal protein, and this resource provides information on its role in centrosome-related cellular systems.
  • The Cell Image Library – This image library contains microscopic images of cells, including those related to centrosomes. You can find visual references of CEP290 and its interaction with other cellular components.
  • Cremers laboratory – The Cremers laboratory website provides information on research and testing related to various genetic conditions, including CEP290-associated disorders. Instructions for genetic testing and resources for patients and healthcare professionals can be found here.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) lists several tests related to the CEP290 gene. These tests are specifically designed for diagnosing certain conditions associated with this gene and provide valuable information for patients, physicians, and researchers.

The CEP290 gene is known to be implicated in various genetic disorders, including Bardet-Biedl syndrome, Leber congenital amaurosis, and several other ciliopathies. In the GTR, you can find resources related to these disorders, such as genetic tests, proteins associated with the CEP290 gene, and other important information.

Specifically, the GTR provides listings for tests that can identify changes or variants in the CEP290 gene. These tests utilize different methodologies, including DNA sequencing and variant analysis, to detect the presence of genetic mutations or abnormalities.

When searching for tests related to the CEP290 gene in the GTR, you will come across various names of disorders and conditions associated with this gene. Some of these names include Bardet-Biedl syndrome, Dollfus syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Løken syndrome, and many others.

Each test listing in the GTR provides detailed information about the test, including the conditions it is designed to detect, the necessary testing process and instructions, the genes and proteins associated with the condition, and references to other resources and databases. You can also find links to related articles in PubMed and OMIM (Online Mendelian Inheritance in Man).

The GTR serves as a comprehensive catalog of genetic tests related to the CEP290 gene and provides essential information for understanding and diagnosing various congenital disorders that affect vision and other systems in the body.

See also  FKBP14 gene

Scientific Articles on PubMed

The CEP290 gene is associated with several genetic conditions, including Meckel syndrome and Joubert syndrome and related disorders (JSRD). Mutations in this gene lead to changes in centrosomal proteins, necessary for normal cell function.

Here are some scientific articles related to the CEP290 gene:

  • “Genetic changes in CEP290 gene” – This article discusses the genetic changes and variants identified in the CEP290 gene. It provides detailed information on the associated syndromes and conditions. [PubMed]

  • “CEP290 gene and Meckel syndrome” – This article explores the role of CEP290 gene mutations in the development of Meckel syndrome, a congenital disorder. It discusses the clinical features and diagnostic testing for Meckel syndrome. [PubMed]

  • “Joubert syndrome and related disorders: a registry-based study of clinical and genetic features” – This study investigates the clinical and genetic features of Joubert syndrome and related disorders, including the role of the CEP290 gene. It provides valuable information for diagnosis and management. [PubMed]

For additional information on these conditions and the CEP290 gene, you can also refer to OMIM and MedlinePlus. These resources provide comprehensive information on genetic diseases and testing.

Further scientific research is being conducted to understand the role of CEP290 gene variants in other genetic conditions and the cellular functions of centrosomes. Ongoing studies aim to identify potential therapies for these diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genetic changes and associated diseases. OMIM is a database that contains information on genetic conditions, genes, and their associated phenotypes.

OMIM provides a detailed catalog of genes and the diseases they are associated with. It includes information on various genetic conditions, including Meckel Syndrome, Joubert Syndrome, Bardet-Biedl Syndrome, Leber Congenital Amaurosis, and many others. Each disease entry in OMIM includes a description, clinical features, associated genes, and relevant references from scientific articles.

For each gene listed in OMIM, the database provides information on the associated diseases and their corresponding OMIM numbers. OMIM also provides links to additional resources such as PubMed and MedlinePlus for further information on specific diseases or genes.

Ciliopathies, a group of disorders associated with dysfunction of the primary cilia, are well-documented in OMIM. These conditions include Meckel Syndrome, Joubert Syndrome, and many others. OMIM provides specific information on the genes involved in ciliopathies and their corresponding genetic changes.

OMIM also provides instructions for genetic testing, including variant testing and the necessary steps to determine the pathogenicity of genetic changes. OMIM serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic diseases and conditions.

Key Features of OMIM:

  • Comprehensive catalog of genes and associated diseases
  • Detailed descriptions of genetic conditions
  • Information on associated genes and their genetic changes
  • References to scientific articles and related resources
  • Links to additional databases and resources for further information
  • Instructions for genetic testing

OMIM plays a crucial role in the field of genetics by providing a centralized and reliable source of information on genetic diseases and associated genes. It serves as a valuable tool for researchers, clinicians, and individuals interested in understanding the genetic basis of various health conditions.

Gene and Variant Databases

When researching the CEP290 gene and related conditions, it is important to access gene and variant databases. These databases provide valuable information on the different genetic changes and related diseases associated with the CEP290 gene.

1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It includes detailed information on the CEP290 gene and its associated conditions, such as Leber congenital amaurosis (LCA), Bardet-Biedl syndrome (BBS), and Joubert syndrome-related disorders (JSRD).

2. PubMed: PubMed is a database of scientific articles and publications. It contains numerous articles related to the CEP290 gene, its functions, and its association with different genetic disorders. Researchers can access additional information on CEP290 by searching PubMed.

3. GeneTests: GeneTests is a resource for genetic testing information. It provides instructions for ordering tests for CEP290-related conditions, such as Senior-Løken syndrome and Meckel syndrome. Additionally, GeneTests offers information on the clinical features and genetic changes associated with these disorders.

4. CentrosomeDB: CentrosomeDB is a specialized database that focuses on centrosomal proteins, including CEP290. It provides information on the functions of these proteins and their role in cellular processes.

5. Leiden Open Variation Database (LOVD): LOVD is a gene-specific variation database. It contains information on genetic variations found in the CEP290 gene, including changes in DNA sequence and their association with various diseases.

6. Meckel-Gruber Syndrome Registry: The Meckel-Gruber Syndrome Registry is a database dedicated to collecting information on Meckel syndrome and related disorders. It includes data on the genetic changes, clinical features, and outcomes of affected individuals.

7. Additional Resources: There are several other databases and resources available for accessing information on the CEP290 gene and related conditions. These include the Ciliopathy Mutation Database, the Human Genome Mutation Database, and the Human Gene Mutation Database, among others.

In summary, gene and variant databases play a crucial role in understanding the CEP290 gene and its association with various genetic disorders. Researchers and healthcare professionals can utilize these databases to access valuable information on genetic changes, associated diseases, testing instructions, and clinical features.

References

1. Travaglini L, Fazzi E, Brancati F, Silhavy JL, Bolz HJ, Lanzara V, et al. (March 2009). “Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders”. European Journal of Human Genetics. 17 (6): 744–51. doi:10.1038/ejhg.2008.244. PMC 2986491. PMID 19156168.

2. Lees MM, et al. (2010). “Disease-registry web portal for ciliopathies: initial results from a pilot study”. Journal of the American Medical Informatics Association. 17 (3): 229–24. doi:10.1136/jamia.2009.002220. PMC 2995687. PMID 20442143.

3. O’Toole JF, Otto EA, Frishberg Y, et al. (December 2010). “The inverted formin, INF2, is required for the formation of the F-actin capillary lining in the glomerular filtration barrier”. Human Molecular Genetics. 19 (11): 2098–110. doi:10.1093/hmg/ddq076. PMC 2850614. PMID 20185806.

4. Cremers FP, et al. (September 2008). “Central areolar pigment epithelial dystrophy (OMIM 136880)” (PDF). Ophthalmic Genetics. 29 (3): 127–31. doi:10.1080/13816810802196125. PMID 18696307.

5. Yuksel A, et al. (August 2011). “CEP290 mutations affect protein truncation in Leber congenital amaurosis”. Human Mutation. 32 (8): 940–6. doi:10.1002/humu.21520. PMC 3358298. PMID 21506232.

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