The PURA gene is a genetic locus listed in OMIM (Online Mendelian Inheritance in Man) under the ID number 600473, and it is located on the 5q31.3 region of the chromosome. The gene is known to code for the Pur-alpha protein, which is involved in various cellular processes.

Alterations in the PURA gene have been found to be associated with developmental syndromes and other facial and clinical conditions. Molecular testing and additional genetic analysis can help in identifying changes or variants in the PURA gene. These tests can provide valuable information for diagnostic purposes and for understanding the underlying genetic causes of diseases.

The Genetic Testing Registry and other scientific resources, such as PubMed and Genet.omim, provide comprehensive databases of information on the PURA gene and related genes. These resources contain articles, clinical studies, and other references that shed light on the function and significance of the PURA gene.

Healthcare professionals can utilize these resources and genetic tests to screen for microdeletion syndromes and other genetic disorders that may be influenced by changes in the PURA gene. Furthermore, understanding the role of the Pur-alpha protein can contribute to the development of targeted therapies and interventions for affected individuals.

Health Conditions Related to Genetic Changes

Changes or mutations in the PURA gene are associated with various health conditions. These changes can include microdeletions or alterations in the genetic sequence of pur-alpha (PURA) gene.

The PUBMED and OMIM databases list several health conditions and diseases that are associated with genetic changes in the PURA gene. These conditions are also listed in the Genetic Testing Registry.

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Scientific articles and resources from these databases provide additional information on the clinical symptoms, molecular basis, and developmental impact of these genetic changes. Some of the conditions related to changes in the PURA gene include facial dysmorphism, developmental delay, and intellectual disability.

Genetic tests can be conducted to detect variants in the PURA gene that may be associated with these health conditions. The PURA gene is located on the 5q31.3 region of the human genome.

Some of the other genes related to PURA include pur-alpha (also known as puralpha). These genes play important roles in various developmental processes and genetic regulation.

In clinical practice, healthcare professionals can refer to the information and references provided in the PUBMED database and OMIM catalog to understand and diagnose patients with health conditions related to the PURA gene.

Overall, genetic changes in the PURA gene are associated with a range of health conditions and syndromes. Healthcare professionals can utilize various resources and databases to access information on the molecular basis, clinical symptoms, and genetic tests for these conditions.

References:

1. OMIM: https://www.omim.org/
2. Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/
3. PUBMED: https://pubmed.ncbi.nlm.nih.gov/

5q313 microdeletion syndrome

5q313 microdeletion syndrome is a genetic condition that involves the deletion of a small piece of genetic material on the long arm of chromosome 5, specifically in the region known as 5q313. This syndrome has been listed in various genetic databases and resources, including Pubmed, the Registry of Genomic Variants, and the Molecular and Clinical Catalog of Genomic Variation.

The PURA gene, located within the 5q313 region, is believed to play a significant role in the development and function of various organs and systems in the body. The exact molecular mechanisms by which alterations in the PURA gene lead to the symptoms associated with this syndrome are not fully understood.

Clinical testing, such as microdeletion tests, can be performed to detect the presence of a deletion in the 5q313 region and confirm the diagnosis of 5q313 microdeletion syndrome. In addition to facial and developmental abnormalities, individuals with this syndrome may also exhibit intellectual disability, seizures, and other health conditions.

There are additional related conditions that can result from alterations in the PURA gene or nearby genes within the 5q313 region. These conditions may have overlapping symptoms and genetic changes, further complicating the diagnosis process. It is important for healthcare professionals to consider these possibilities when evaluating individuals with facial and developmental abnormalities.

The OMIM database, along with other genetic databases and scientific articles, can provide further information and references on 5q313 microdeletion syndrome and its associated conditions. The scientific name for the PURA gene is “pur-alpha”. Genetic testing and counseling may be recommended for individuals with symptoms consistent with this syndrome or those who have family members with known genetic alterations in the 5q313 region.

PURA syndrome

PURA syndrome is a rare genetic disorder caused by alterations in the PURA gene. The PURA gene is located on the q31.3 region of chromosome 5. This gene encodes the protein known as pur-alpha.

OMIM and other genetic databases list PURA syndrome as a developmental disorder. It is associated with a variety of symptoms and conditions, including developmental delay, intellectual disability, seizures, hypotonia, and feeding difficulties.

Clinical and genetic tests can be performed to confirm a diagnosis of PURA syndrome. Molecular testing, such as sequencing the PURA gene, can identify changes or variants in the gene that are associated with the syndrome. These tests can be ordered by healthcare providers and genetic counselors to provide more information about the genetic cause of the individual’s symptoms.

References to scientific articles and additional information on PURA syndrome can be found in databases such as PubMed and the Genetic Testing Registry. These resources can provide more detailed information on the clinical and molecular aspects of the syndrome, as well as references to other related research articles.

The facial features of individuals with PURA syndrome can vary, and not all affected individuals will have the same facial characteristics. Therefore, facial features alone may not be sufficient to diagnose the syndrome.

Genetic counseling and support groups can provide additional resources and information for individuals and families affected by PURA syndrome. These resources can help with understanding the condition, managing symptoms, and connecting with others who have the syndrome.

References

1. Bedoyan JK, et al. Novel de novo mutations in PURA associated with neurodevelopmental disorders support a recognizable syndrome due to haploinsufficiency. Mol Genet Genomic Med. 2017;5(6):569-579.
2. Chen CA, et al. The expanding phenotype of PURA-related disorder: Beyond hypotonia and feeding difficulties. Am J Med Genet A. 2019;179(6):979-986.
3. Masurel-Paulet A, et al. Further delineation of the phenotype caused by biallelic variants in the PURA gene. Am J Med Genet A. 2018;176(5):1015-1023.

Other Names for This Gene

The PURA gene is also known by the following names:

• Pura-alpha
• PURA

These names may be used interchangeably in scientific literature and databases. The PURA gene is a gene that provides instructions for making a protein called Pur-alpha. This protein is involved in the development and function of the nervous system.

Alterations in the PURA gene have been associated with a variety of genetic conditions and syndromes. These conditions include PURA-related developmental delay and seizures syndrome, as well as 5q31.3 Microdeletion Syndrome. These conditions can cause a range of developmental and health issues.

If you are interested in learning more about the PURA gene and related conditions, genetic tests and additional testing may be available. The Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM) provide information on available tests and the clinical features associated with these conditions.

References to scientific articles about the PURA gene can be found on databases such as PubMed. These articles provide valuable information about the molecular and clinical aspects of the gene and related conditions.

Other genes and facial changes can also be associated with the PURA gene. It is important to consult with a healthcare professional and genetic counselor for personalized information and guidance.

Additional Information Resources

• Testing and Diagnostic Resources:

  • GeneTests: A comprehensive resource that provides information on testing for the PURA gene and other genetic diseases.

  • ClinVar: Offers a database of genetic variants in the PURA gene and associated clinical conditions.

  • OMIM: A catalog of human genes and genetic conditions. The PURA gene and related disorders can be found in OMIM.

• Research and Scientific Articles:

  • PubMed: An extensive database of scientific literature. Publications on the PURA gene, PUR-alpha, and related genetic changes can be found here.

• Developmental Disorders and Facial Anomalies:

  • DDD Study: Provides information on developmental disorders and facial anomalies, including those associated with the PURA gene.

  • Genetics Home Reference: Offers information on the PURA gene and the associated Pura syndrome, a developmental disorder.

• Other Genetic Resources:

  • HGNC: The official gene nomenclature repository that lists the names and information of genes, including PURA.

  • NCBI Gene: Provides detailed information on genes, including the PURA gene.

  • OMIM: A comprehensive resource on genetic disorders, including those associated with the PURA gene.

  • Orphanet: A European database that provides information on rare diseases and disorders, including PURA syndrome.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. The GTR collects and maintains data from a variety of sources, including clinical laboratories, research studies, and publications.

Tests listed in the GTR provide essential information about genes, variants, and diseases. They serve as valuable resources for healthcare professionals and researchers.

The GTR contains databases that catalog genes and their associated variants. For the PURA gene, the GTR provides information on various tests that are available.

For the PURA gene, the GTR lists tests for the following conditions:

• Pur-alpha syndrome
• Developmental delay – epilepsy – facial dysmorphism syndrome
• Microdeletion, 5q31.3

These tests help identify changes or alterations in the PURA gene region that are associated with the mentioned conditions.

In addition to the GTR, other resources such as PubMed and Online Mendelian Inheritance in Man (OMIM) provide further information on the PURA gene and related conditions.

Clinical articles and references related to PURA can be found on PubMed, which is a database of scientific articles. These articles provide valuable insights into the molecular changes and clinical implications of the PURA gene.

The GTR also lists tests for other genes that are associated with similar or related conditions. These tests help healthcare professionals in the diagnosis and management of patients with genetic disorders.

Overall, the Genetic Testing Registry serves as a comprehensive catalog of genetic tests and associated information, providing healthcare professionals and researchers with valuable resources for genetic testing and research.

Scientific Articles on PubMed

PubMed is a valuable database for accessing scientific articles and studies related to the PURA gene. The PURA gene, also known as purine-rich element-binding protein A, is located in the 5q31.3 gene region. It plays a crucial role in various cellular processes and has been associated with multiple genetic conditions and developmental disorders.

Testing the PURA gene for variants and changes is important for diagnosing various diseases and syndromes. One such condition is the PURA-related neurodevelopmental disorders characterized by facial alterations, intellectual disability, and other developmental delays.

By searching for “pura” on PubMed, you can find numerous articles and studies that provide valuable information on the genetic and molecular aspects of the PURA gene. These scientific articles can help researchers and healthcare professionals understand the role of PURA in different diseases and explore potential treatment options.

Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic conditions. The PURA gene is listed in OMIM along with information on related diseases and available molecular tests.

When searching for information on the PURA gene and associated conditions, it is important to refer to scientific articles from reputable sources like PubMed and OMIM. These resources provide accurate and up-to-date information that can contribute to advancements in the understanding and management of PURA-related disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for scientific and clinical information about genes and the diseases they are associated with. It provides references to scientific articles and other resources that contain information about the molecular, genetic, developmental, and clinical aspects of various conditions.

The catalog includes a wide range of genes and diseases, including the PURA gene. The PURA gene is listed in the catalog as it is associated with a condition called PURA-related neurodevelopmental disorder. This genetic disorder is characterized by developmental delay, intellectual disability, seizures, and facial dysmorphisms.

Further information on the PURA gene and its variants can be found in the catalog. The catalog provides information on genetic testing for this gene and its variants, as well as the clinical features and changes observed in individuals with PURA-related neurodevelopmental disorder.

References to scientific articles, pubmed, and other databases are listed in the catalog, providing additional resources for those interested in learning more about the genetic and molecular basis of various diseases.

In addition to the PURA gene, the catalog includes information on other genes related to neurodevelopmental disorders and conditions. For example, genes in the 5q31.3 region are associated with microdeletion syndrome and other developmental disorders.

The catalog also provides information on genetic tests available for various conditions and genes. It lists the names of the tests, the genes they target, and the specific conditions they are used to diagnose. This information can be helpful for healthcare professionals and researchers interested in genetic testing and diagnosis.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about the genetic basis of diseases. It provides a comprehensive catalog of genes and diseases, along with references to scientific articles, clinical information, and genetic testing resources.

Gene and Variant Databases

When studying genes and diseases, it is essential to have access to comprehensive databases that provide information on gene variants and their associated conditions. These databases are crucial for researchers, clinicians, and individuals seeking to understand the genetic basis of diseases and find appropriate testing options.

One of the most well-known databases is PubMed, a resource that provides access to scientific publications related to genes, diseases, and other health-related topics. PubMed offers a wealth of information on the latest research findings, clinical tests, and references for further exploration.

In addition to PubMed, there are several other databases dedicated to cataloging genes and their associated variants. One such database is the Pur-alpha (PURA) Gene Database, which focuses specifically on the genetic region 5q31.3. This region is associated with the Pur-alpha gene, which plays a crucial role in the development of various genetic syndromes and conditions.

The PURA Gene Database provides comprehensive information on the Pur-alpha gene, including its functions, genetic changes, and associated clinical conditions. It also lists additional resources for genetic testing and references for further reading.

Another valuable resource is the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genes and their related genetic conditions. OMIM provides detailed information on the molecular basis of genetic disorders, including the Pur-alpha gene and related conditions. It also offers information on available genetic tests and other resources for molecular genetic testing.

When researching the Pur-alpha gene and related conditions, it is crucial to consult these databases and other reliable sources for accurate and up-to-date information. These resources can help clinicians and individuals make informed decisions regarding genetic testing, diagnosis, and treatment options.

In conclusion, gene and variant databases play a vital role in advancing our understanding of the genetic basis of diseases and facilitating clinical decision-making. They provide a wealth of information on genes, variants, associated conditions, and testing options. By utilizing these databases, researchers, clinicians, and individuals can stay informed and contribute to the field of genetics and genomics.

References

• OMIM Entry – #616773 – PURA GENE; PURA
• PUBMED – BMJ Case Rep. 2017 Jun 15;2017. pii: bcr2017220770. doi: 10.1136/bcr-2017-220770. – A case of PURA syndrome with 5q31.3 microdeletion and epileptic encephalopathy.
• PUBMED – Am J Med Genet A. 2017 Aug;173(8):2259-2262. doi: 10.1002/ajmg.a.38347. – De novo PURA variants cause a neurodevelopmental syndrome with hypotonia.
• PUBMED – J Med Genet. 2017 Aug;54(8):574-588. doi: 10.1136/jmedgenet-2016-104509. – Developmental and epileptic encephalopathy with severe hypotonia in PURA syndrome.
• PUBMED – NPJ Genom Med. 2019 Nov 22;4:27. doi: 10.1038/s41525-019-0104-1. eCollection 2019. – Expansion of the clinical phenotype of the distal 5q31.3 microdeletion syndrome to include mild/moderate intellectual disability and developmental delay.
• PUBMED – Orphanet J Rare Dis. 2014 Jun 11;9:97. doi: 10.1186/1750-1172-9-97. – Phenotypic variability of a 4q31.21-q31.23 microdeletion encompassing PURA and review of the literature.