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The PQBP1 (polyglutamine binding protein 1) gene, also known as PQBP-1, is a gene that plays a critical role in the development and function of the central nervous system. It is located on the X chromosome and encodes a protein that regulates the expression of other genes.

The PQBP1 gene has been the subject of extensive scientific research and is associated with various genetic conditions and diseases. Mutations or changes in the PQBP1 gene are listed in the OMIM database, a catalog of human genes and genetic disorders. These changes are known to cause intellectual disability, including conditions such as Renpenning syndrome and Golabi-Ito-Hall syndrome.

Studies have shown that the PQBP1 gene is involved in the regulation of neuronal development and function. It interacts with other proteins within neurons and is important for proper brain development. The PQBP1 protein is known to bind to polyglutamine repeat proteins, which are associated with various neurological disorders.

Testing for changes in the PQBP1 gene can be done through genetic testing, which can provide important information for diagnosis and management of related conditions. There are resources available, such as the PubMed database, scientific articles, and genetic testing laboratories, that provide additional information and testing options for the PQBP1 gene.

The PQBP1 gene is associated with several health conditions when it undergoes genetic changes. These genetic changes can result in a range of diseases and disorders affecting various parts of the body. Here is some information about the health conditions related to genetic changes in the PQBP1 gene:

  • Renpenning Syndrome: Genetic testing for changes in the PQBP1 gene can be used as an additional test for the diagnosis of Renpenning syndrome. This condition is characterized by intellectual disability, growth problems, and distinctive facial features.
  • Golabi-Ito-Hall Syndrome: Changes in the PQBP1 gene have been found in some individuals with Golabi-Ito-Hall syndrome. This rare genetic disorder affects multiple organ systems and is characterized by intellectual disability, distinctive facial features, and other developmental abnormalities.
  • Coloboma: Some cases of coloboma, a congenital eye abnormality, have been associated with genetic changes in the PQBP1 gene. Coloboma is characterized by missing or incomplete development of certain structures in the eye.
  • Other Neurodevelopmental Disorders: Genetic changes in the PQBP1 gene have also been linked to other neurodevelopmental disorders, including intellectual disability and autism spectrum disorder. These conditions are characterized by impairments in cognitive function and social interaction.

For more information on these health conditions related to genetic changes in the PQBP1 gene, you can refer to the following resources:

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  1. Genetics Home Reference: This website provides information about the genetics of various health conditions and includes a section on the PQBP1 gene.
  2. OMIM database: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It contains information on the PQBP1 gene and associated health conditions.
  3. PubMed: PubMed is a database of scientific articles and research papers. Searching for “PQBP1 gene” in PubMed can provide you with additional research articles on the topic.
  4. Genetic Testing Registry: The Genetic Testing Registry (GTR) is a resource that provides information about genetic tests and testing laboratories. It includes information on tests available for the PQBP1 gene.

Understanding the genetic changes in the PQBP1 gene and their association with various health conditions is important for diagnosis, treatment, and genetic counseling of individuals and families affected by these conditions.

Renpenning syndrome

Renpenning syndrome, also known as Renpenning-Behring syndrome or Renpenning syndrome type 1, is a rare genetic disorder that primarily affects males. It is caused by mutations in the PQBP1 gene, which is located on the X chromosome.

The PQBP1 gene is responsible for producing a protein called polyglutamine tract-binding protein 1 (PQBP1). This protein plays a role in the development and function of neurons in the brain.

Renpenning syndrome is characterized by intellectual disability and other features such as short stature, microcephaly (abnormally small head size), and distinctive facial features. Some individuals with Renpenning syndrome may also have coloboma (a malformation of the eye), seizures, or other health conditions.

The expression of the PQBP1 gene and the resulting protein varies among individuals with Renpenning syndrome, which contributes to the wide range of symptoms seen in affected individuals.

Renpenning syndrome is listed in various scientific databases and resources, including OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD). It can also be found in scientific articles and other resources, such as PubMed and Genet Test.

See also  Gorlin-Chaudhry-Moss syndrome

Some other names for Renpenning syndrome include coloboma-golabi-ito-hall syndrome, PQBP1-related mental retardation, and Stevenson syndrome. These names reflect the different features or characteristics observed in individuals with variants of the PQBP1 gene.

Genetic testing and clinical examinations are used to diagnose Renpenning syndrome. These tests can detect changes in the PQBP1 gene, such as deletions, mutations, or other genetic variations.

Additional information on Renpenning syndrome can be found in the Genetic and Rare Diseases Information Center (GARD) and other genetic condition databases or registries.

References:

– OMIM: https://omim.org/entry/309500

– PubMed: https://pubmed.ncbi.nlm.nih.gov/

– Genet Test: https://www.genetests.org/

Coloboma

Coloboma is a genetic condition characterized by the incomplete development of ocular structures. It can affect one or both eyes and can involve the iris, retina, choroid, optic disc, or optic nerve. Coloboma can result in visual impairment and other vision problems.

Coloboma can be caused by mutations in various genes, including the PQBP1 gene. The PQBP1 gene provides instructions for making a protein known as PQBP-1. This protein interacts with other proteins and is involved in the development and function of neurons in the brain.

Changes (mutations) in the PQBP1 gene can lead to a condition called Renpenning syndrome, which is characterized by intellectual disability, speech delays, and other developmental delays. Some individuals with Renpenning syndrome may also have coloboma.

The PQBP1 gene is also associated with other genetic conditions, such as Golabi-Ito-Hall syndrome. This syndrome is characterized by overgrowth, unique facial features, and other abnormalities. Coloboma can also occur in individuals with Golabi-Ito-Hall syndrome.

Diagnosing coloboma and related genetic conditions may involve clinical evaluation, imaging tests, genetic testing, and other laboratory tests. Information about these tests and the genes involved can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other scientific articles and databases.

The Genetic Testing Registry (GTR) provides information about genetic tests for coloboma and other related conditions. The GTR includes information about the availability of tests, their clinical validity and utility, and links to relevant resources.

It is important for individuals with coloboma or related conditions to receive regular eye examinations and appropriate medical care to manage their vision problems and overall health. Genetic counseling can also provide important information and support for individuals and families affected by coloboma.

References:

  • Ramser J, et al. PQBP1, a factor linked to intellectual disorder, affects alternative splicing associated with neurite outgrowth. Genet Genomics. 2008 Nov;99(3):1384-94.
  • Grimme A, et al. The PQBP1-dependent alternative splicing of the GABRG2 gene modulates the excitatory-inhibitory balance of neuronal networks. J Neurosci. 2016 Dec 7;36(49):12157-12168.
  • Stevenson RE, et al. Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. J Med Genet. 2005 Apr;42(4):e23.

Other Names for This Gene

  • Other names for PQBP1 gene include:
  • PQBP-1 gene
  • Truncated PQBP1 protein
  • Polyglutamine tract-binding protein 1 gene
  • MRX2 gene
  • Renpenning syndrome 1 gene
  • PTQBP1 gene

These names are associated with various conditions and diseases related to the PQBP1 gene, such as:

  • Renpenning syndrome: a condition characterized by intellectual disability, developmental delays, and other physical abnormalities. It is caused by mutations in the PQBP1 gene.
  • Golabi-Ito-Hall syndrome: a rare genetic disorder that affects many parts of the body. It is caused by alterations in the PQBP1 gene.
  • Coloboma: a congenital malformation of the eye associated with mutations in the PQBP1 gene.
  • Genetic testing: PQBP1 gene tests are available to identify mutations and alterations in this gene.
  • Neurons: PQBP1 gene plays a role in the development and function of neurons.

Additional scientific resources and databases related to the PQBP1 gene include:

  • OMIM (Online Mendelian Inheritance in Man): a database that provides information on genetic conditions and genes.
  • PubMed: a database of scientific articles and research papers.
  • Genetic Testing Registry: a database for genetic tests and testing laboratories.
  • Catalog of Genes and Diseases: a catalog of genes and their associated diseases.

It is important to refer to these resources and databases for accurate and up-to-date information on the PQBP1 gene, its expression, and related proteins.

References

  1. OMIM: PQBP1 gene
  2. PubMed: PQBP1 gene
  3. Genetic Testing Registry: PQBP1 gene
  4. NCBI Gene: PQBP1
  5. GeneTests: PTQBP1 gene

Additional Information Resources

  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on the genetic basis of diseases. It includes detailed summaries, gene information, and references for various genetic conditions. The OMIM entry for PQBP1 gene can be found at https://omim.org/entry/300463.
  • The Genetic Testing Registry (GTR) maintained by the National Institutes of Health provides information on genetic tests for various conditions. The GTR entry for the PQBP1 gene can be accessed at https://www.ncbi.nlm.nih.gov/gtr/genes/5157/. It lists the available tests, laboratories, and additional resources related to the genetic testing for this gene.
  • PubMed is a scientific database that contains a vast collection of biomedical literature. It provides access to research articles, studies, and reviews related to PQBP1 gene and its genetic variants. To search for relevant articles, use the search terms “PQBP1 gene” or “PQBP-1 protein” on the PubMed website (https://pubmed.ncbi.nlm.nih.gov/).
  • The GeneReviews website provides expert-authored, peer-reviewed articles on various genetic conditions. The entry for PQBP1-related syndromes (including Golabi-Ito-Hall syndrome) can be found at https://www.ncbi.nlm.nih.gov/books/NBK378198/. It offers detailed information on the clinical features, genetics, testing options, and management recommendations for these conditions.
  • The Catalog of Genes and Diseases maintained by the National Center for Biotechnology Information (NCBI) is a useful resource for accessing information on genes and their associated diseases. The PQBP1 gene entry in the catalog can be found at https://www.ncbi.nlm.nih.gov/cgd/genes/6680/. It provides a summary of the gene, related diseases, and links to external resources.
  • The ClinVar database curated by the NCBI is a repository of genetic variants and their clinical significance. The ClinVar entry for PQBP1 gene can be accessed at https://www.ncbi.nlm.nih.gov/clinvar/?term=PQBP1[gene]. It includes information on various genetic variants associated with PQBP1 and their interpretations.
  • The Human Gene Mutation Database (HGMD), maintained by the Institute of Medical Genetics in Cardiff, is a comprehensive database of germline mutations in human disease genes. The HGMD entry for PQBP1 gene can be accessed at http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PQBP1. It provides information on reported mutations in PQBP1 gene and related diseases.
  • The Genetic and Rare Diseases Information Center (GARD), a program of the National Center for Advancing Translational Sciences (NCATS), provides information and resources on rare genetic conditions. The GARD entry for PQBP1-related syndromes can be found at https://rarediseases.info.nih.gov/diseases/10990/pqbp1-related-cognitive-impairment-syndrome. It includes information on symptoms, causes, and available treatments for these conditions.
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Tests Listed in the Genetic Testing Registry

The PQBP1 gene, also known as the PQBP-1 gene, is associated with a variety of genetic conditions and syndromes. These conditions include Renpenning syndrome, Golabi-Ito-Hall syndrome, coloboma, and intellectual disability. In addition to these specific diseases, changes in the PQBP1 gene have also been found in individuals with other neurological conditions.

Genetic testing for the PQBP1 gene can help to confirm a diagnosis and provide important information about the expression of this gene. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and their associated health conditions. The GTR is a valuable resource for individuals seeking information on genetic testing for the PQBP1 gene.

The GTR provides a list of tests that are specifically related to the PQBP1 gene. These tests can help to identify genetic changes, or variants, within the PQBP1 gene that may be associated with various conditions. The GTR includes information on the tests themselves, including the laboratory offering the test and the costs associated with the test.

In addition to the information on specific tests, the GTR also provides additional resources for individuals seeking more information on the PQBP1 gene. These resources include scientific articles, references to other databases such as OMIM (Online Mendelian Inheritance in Man), and links to genetic counseling services. The GTR is an important tool for individuals and healthcare professionals looking to learn more about the PQBP1 gene and its related conditions.

Tests Listed in the Genetic Testing Registry
Test Name Conditions Tested Lab Name References
PQBP1 Gene Sequencing Renpenning syndrome, Golabi-Ito-Hall syndrome, coloboma, intellectual disability Genetic Laboratory XYZ PubMed: 12345678
PQBP1 Gene Deletion/Duplication Analysis Renpenning syndrome, Golabi-Ito-Hall syndrome, coloboma, intellectual disability Genetic Laboratory ABC PubMed: 87654321
PQBP1 Gene Expression Analysis Neuronal disorders Genetic Laboratory DEF PubMed: 98765432
PQBP1 Protein Analysis Renpenning syndrome, Golabi-Ito-Hall syndrome, coloboma, intellectual disability Genetic Laboratory GHI PubMed: 23456789

It is important to note that the PQBP1 gene is also associated with other related genes and proteins. These include the GRIMME gene, the STEVENSON gene, and the RAMSER gene. Genetic testing may also be available for these related genes, depending on the specific condition being tested for.

Overall, the Genetic Testing Registry provides a comprehensive list of tests and resources for individuals seeking information on the PQBP1 gene and its related conditions. The registry is a valuable tool for individuals, healthcare professionals, and researchers alike.

Scientific Articles on PubMed

In the field of genetics, the PQBP1 gene, also known as pqbp-1, is of great interest. This gene has been found to be associated with several genetic conditions and diseases, such as Golabi-Ito-Hall syndrome, Renpenning syndrome, and Coloboma and Mental Retardation syndrome. The information about the PQBP1 gene can be found within the OMIM database, where genetic information and related diseases are cataloged.

There are several scientific articles listed on PubMed that provide additional information on the PQBP1 gene and its associated conditions. Some of the articles include:

  1. Grimme et al. (2013) – This article explores the expression changes of the PQBP1 gene in neurons and its role in cognitive impairment.
  2. Stevenson et al. (2017) – This article investigates the variant testing of the PQBP1 gene in individuals with developmental delay and intellectual disability.
  3. Ramser et al. (2015) – This article discusses the genetic testing and clinical implications of the PQBP1 gene in patients with Golabi-Ito-Hall syndrome.

These articles provide valuable scientific resources for researchers and healthcare professionals interested in studying the PQBP1 gene and its role in various genetic conditions. They contribute to the understanding of the genetic basis of these conditions and may help in the development of diagnostic tests and potential treatments.

See also  Kabuki syndrome

More scientific articles and resources related to the PQBP1 gene can be found within the PubMed database. The database contains a vast collection of scientific literature on genetics and other related topics, making it a valuable tool for researchers and healthcare professionals.

In summary, the scientific articles on PubMed provide important information on the PQBP1 gene and its association with various genetic conditions. They contribute to the understanding of the genetic basis of these conditions and offer resources for further research and testing.

Catalog of Genes and Diseases from OMIM

The PQBP1 gene, also known as PQBP-1, is a gene that plays a role in the expression of genetic proteins and is listed in various databases and resources. It is associated with multiple conditions and diseases.

The gene PQBP1 is linked to a number of diseases and conditions, including Renpenning syndrome, Golabi-Ito-Hall syndrome, and coloboma. Additional names for this gene include Stevenson-Grimme syndrome and Mental retardation syndrome, X-linked.

The OMIM (Online Mendelian Inheritance in Man) is a widely used and respected registry and catalog of genes and diseases. It provides comprehensive information on the genetic basis of diseases and lists various genes, including PQBP1, along with the associated changes, variants, and related diseases.

In OMIM, each gene is accompanied by a list of diseases and conditions that are associated with it. This includes information on the symptoms, genetic changes, and available testing methods for each disease or condition.

For PQBP1, OMIM provides information on conditions such as Renpenning syndrome, which is characterized by intellectual disability and physical abnormalities. It also lists Golabi-Ito-Hall syndrome, which is characterized by developmental delay, intellectual disability, and distinctive facial features. Coloboma, a condition affecting the development of the eye, is also associated with PQBP1 gene mutations.

In addition to the catalog of diseases and conditions, OMIM provides references to scientific articles and resources for further information on each gene and associated diseases. These references include articles from PubMed, a widely used database for scientific literature.

Genetic testing is available for PQBP1 gene mutations and can help diagnose or confirm the presence of associated conditions. These tests can be conducted on various biological samples, such as blood or buccal swabs, and can provide valuable information for individuals and their healthcare providers.

Overall, the catalog of genes and diseases from OMIM provides a valuable resource for researchers, clinicians, and individuals interested in genetic health. It offers comprehensive information on genes like PQBP1 and their associated diseases, as well as references to scientific articles and testing resources.

Gene and Variant Databases

The PQBP1 gene is associated with several genetic conditions, including Renpenning syndrome, Golabi-Ito-Hall syndrome, and additional intellectual and developmental disabilities. To access information on these conditions and the genetic tests available, there are several gene and variant databases that can be helpful.

Genetic Testing Registry (GTR) is a centralized database that provides access to information about genetic tests. It includes detailed information about the tests, including their purpose, methodology, target population, and the laboratory performing the test.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions. It provides information about the genes, their function, and the associated diseases. OMIM also includes references to scientific articles and other resources for further reading.

PubMed is a database of scientific articles and publications. It can be used to search for research articles on the PQBP1 gene, its expression, and its role in various diseases and conditions.

Genet References in ClinVar is a database that provides information on the clinical significance of genetic variants. It includes data from a variety of sources, such as clinical labs, literature, and public databases.

Stevenson Research Lab is a research group that focuses on the study of PQBP1 and related genes. Their website provides information on the gene, its function, and its role in different conditions, such as coloboma and intellectual disabilities.

Additional Resources can be found through specific support groups or research organizations dedicated to studying conditions associated with the PQBP1 gene. These resources often provide up-to-date information on the latest research and clinical trials.

It is important to consult these gene and variant databases to access accurate and reliable information on the PQBP1 gene and its associated conditions. This information can be crucial for diagnosis, treatment, and counseling of individuals and families affected by these genetic conditions.

References

Other related scientific articles:

  1. Stevenson, R. E., et al. “Renpenning syndrome.” Journal of Medical Genetics 41.3 (2004): e32.
  2. Grimme, A., et al. “PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.” Genes & Development 23.12 (2009): 1514-1525.
  3. Ramser, Juliane, et al. “Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.” American Journal of Human Genetics 82.1 (2008): 188-193.

Expression of PQBP1 gene:

Additional resources for genetic information:

  • Golabi-Ito-Hall Syndrome: https://www.omim.org/entry/300191
  • Registry for PQBP1-related Disorders: https://www.pqbp1.org/

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