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PURA syndrome, also known as pura-related developmental and epileptic encephalopathy, is a rare genetic condition that is associated with developmental delay and epilepsy. This syndrome was first described in 2014 by the geneticist Matthew J. Bainbridge and his colleagues.

Patients with PURA syndrome typically experience more severe developmental delay and intellectual disability compared to other genetic syndromes. They may also have epilepsy, feeding difficulties, and other medical problems. The syndrome is caused by mutations in the PURA gene, which is involved in the development and function of the brain.

There is currently no cure for PURA syndrome, but early intervention and supportive care can help manage the symptoms and improve the quality of life for affected individuals. Genetic testing can be used to confirm the diagnosis and identify specific mutations in the PURA gene. More scientific research is needed to better understand the underlying causes of this rare condition and develop targeted treatments.

For more information about PURA syndrome and related genetic conditions, you can visit the PURA Syndrome Research Consortium website or consult the PURA Syndrome Foundation. These resources provide information and support for families affected by the condition, as well as researchers and healthcare professionals. The online databases PubMed and OMIM can also be referenced for additional articles and genetic information.

Frequency

PURA syndrome is a rare genetic condition that affects infants and is associated with developmental delay and other problems.

The frequency of PURA syndrome is currently unknown. However, it is considered to be a rare condition.

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Patients with PURA-related condition have a mutation in the PURA gene, which causes the associated symptoms. The PURA gene is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing on the condition to their children.

Testing for PURA syndrome can be done through genetic testing, which involves analyzing the patient’s genes for mutations in the PURA gene. This can help confirm a diagnosis and provide more information about the condition.

For more information about PURA syndrome, you can visit the following resources:

These resources provide scientific articles, patient advocacy information, and additional references related to PURA syndrome.

Causes

Pura syndrome, also known as PURA-related syndrome, is a rare genetic condition associated with developmental delay and other rare medical problems. It is caused by mutations in the PURA gene. The PURA gene provides instructions for making a protein that is important for normal brain development and function.

Most cases of Pura syndrome result from new mutations in the PURA gene and occur sporadically in people with no history of the condition in their family. In these cases, the condition is not inherited from the parents and is not passed on to future generations.

However, in some families, the condition is inherited in an autosomal dominant manner, which means that a mutation in one copy of the PURA gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually has one parent with the condition.

Scientists are still learning about the specific genes and genetic changes that are associated with Pura syndrome. They continue to research and catalog additional genes that may be related to the condition.

To learn more about the causes of Pura syndrome, you can refer to the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) catalog: This database provides information on the frequency of Pura syndrome and other rare diseases associated with genetic mutations.
  • Scientific articles: Various scientific articles are available on PubMed that discuss the genetic causes and inheritance patterns of Pura syndrome.
  • Support and advocacy organizations: These organizations provide information and support for families affected by Pura syndrome. They can help connect you with genetic testing centers and other resources to learn more about the condition.

If you suspect that your infant has Pura syndrome or if your child is experiencing developmental delay, it is important to consult with a healthcare professional. They can conduct genetic testing to confirm the diagnosis and provide information on potential treatment options. Additional research and testing are constantly being conducted to learn more about the causes and potential treatments for this condition.

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Learn more about the gene associated with PURA syndrome

PURA syndrome, also known as pura-related neurodevelopmental disorder, is a rare genetic condition associated with mutations in the PURA gene. The PURA gene provides instructions for making a protein that is involved in the development and functioning of the nervous system.

Additional names for PURA syndrome include “neonatal-infantile seizures with hypotonia,” “severe neonatal hypotonia-seizures-encephalopathy syndrome due to Pura deficiency,” and “severe neonatal encephalopathy-seizures-microcephaly syndrome due to Pura deficiency”.

PURA syndrome is a rare condition, with only a few cases reported in the scientific literature. It is often characterized by developmental delay, feeding difficulties, seizures, and other neurological problems in infants.

The condition is genetic and follows an autosomal dominant pattern of inheritance, meaning that a mutation in one copy of the PURA gene is sufficient to cause the condition. In some cases, the mutation occurs spontaneously, without being inherited from a parent.

If you suspect that your patient may have PURA syndrome, genetic testing can be performed to confirm the diagnosis. The PURA gene can be sequenced to identify any mutations or variations associated with the condition.

For more information about PURA syndrome, you can refer to the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on various genetic diseases, including PURA syndrome. Additionally, scientific articles and references on PURA syndrome can be found on PubMed, a database of biomedical literature.

Advocacy organizations and support groups may also provide resources and information for individuals and families affected by PURA syndrome. These resources can help provide a better understanding of the condition and available support options.

In summary, PURA syndrome is a rare genetic condition associated with mutations in the PURA gene. It causes developmental delay, seizures, and other neurological problems in infants. Genetic testing and resources from organizations and databases can provide further information and support for individuals and families affected by this condition.

Inheritance

The PURA syndrome is a very rare genetic condition that is caused by mutations in the PURA gene. Inheritance of this syndrome follows an autosomal dominant pattern, which means that each child of an affected individual has a 50% chance of inheriting the condition.

Testing for PURA syndrome can be done with genetic testing of the PURA gene. This testing can provide a definitive diagnosis and is typically recommended for individuals with clinical features suggestive of PURA syndrome.

There are also other rare genes associated with neonatal-onset developmental delay, and testing of these genes may be considered in individuals with similar clinical features but without a mutation in the PURA gene. Additional information about these genes and associated conditions can be found in the scientific literature and genetic testing catalogs.

For more information about the inheritance, genes, and testing associated with PURA syndrome, the following resources may be helpful:

  • Scientific Articles: PubMed is a valuable resource for finding scientific articles about PURA-related conditions. Searching for “PURA syndrome” or “PURA gene” can provide a list of relevant articles.
  • Advocacy and Support: There are several advocacy organizations and support groups for individuals and families affected by PURA syndrome. These organizations can provide additional information, support, and resources for patients and their families.
  • Genetic Testing Centers: Many genetic testing centers offer testing for PURA syndrome and other rare genetic conditions. These centers can provide information about the frequency of mutations in the PURA gene and other relevant genes.

In summary, PURA syndrome is a rare genetic condition caused by mutations in the PURA gene. Inheritance follows an autosomal dominant pattern. Genetic testing can help confirm a diagnosis, and there are resources available for support and further information.

Other Names for This Condition

PURA syndrome is also known by several other names, including:

  • PURA-related developmental delay and neurologic anomalies alone or with other features
  • PURA-related developmental delay, neonatal hypotonia, and neonatal epileptic encephalopathy
  • PURA-related developmental delay and epilepsy

This condition is cataloged under the following additional names:

  • De novo PURA mutation
  • MRD46

More information about this condition can be found on the following resources:

  • The Pura Syndrome website, which provides information and support for individuals and families affected by this condition
  • The OMIM entry for PURA syndrome, which provides scientific articles and references
  • The PubMed database, where you can find scientific articles about this condition
  • The Online Mendelian Inheritance in Man (OMIM) gene catalog, which contains information on genes associated with this condition
  • The National Institutes of Health Genetic Testing Registry, which provides information on genetic testing for PURA syndrome
  • Advocacy organizations such as PURA Syndrome Foundation, which provide support and resources for individuals and families affected by this condition

It is a rare syndrome, with a frequency of about 1 in 100,000 newborns.

Additional Information Resources

See also  Infantile neuroaxonal dystrophy

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding rare conditions such as PURA syndrome. This testing provides valuable information about the specific genetic changes that may cause the condition, helping physicians and families learn more about the underlying causes and potential management strategies.

There are different types of genetic testing available, including:

  • Carrier testing: This type of testing helps individuals learn if they carry a genetic change that could be passed on to their children.
  • Prenatal testing: This testing is performed during pregnancy to determine if the fetus has the genetic changes associated with PURA syndrome.
  • Diagnostic testing: This testing is used to confirm a diagnosis in individuals who show signs and symptoms of PURA syndrome.
  • Presymptomatic and predictive testing: This testing is performed in individuals with a family history of PURA syndrome to learn if they are likely to develop the condition in the future.

Genetic testing for PURA syndrome can provide information on the specific genetic changes in the PURA gene. The PURA gene provides instructions for making a protein that is involved in the development and function of the brain and other tissues. Mutations in this gene have been associated with a range of developmental delays and other problems.

In addition to genetic testing, there are other resources available to learn more about PURA syndrome. These include scientific articles, patient support organizations, and advocacy groups. PubMed and OMIM are valuable sources of information for scientific articles and further information on the condition.

Medical centers specializing in rare diseases, such as the PURA syndrome, can provide additional information and resources for families and individuals affected by this condition. These centers may offer genetic counseling and patient support services to help individuals and families manage the challenges associated with PURA syndrome.

For more information on PURA-related genetic testing and the associated neonatal condition, please refer to the following resources:

  1. OMIM – a catalog of human genes and genetic disorders: “PURA SYNDROME; PURASYND” (http://omim.org/entry/615109)
  2. PubMed – a database of scientific articles: Selber, S.A., et al. “PURA Syndrome: Clinical Features and Diagnosis Confirmation.” Pediatric Neurology, vol. 50, no. 4, 2014, pp. 377-380. (https://pubmed.ncbi.nlm.nih.gov/24684767/)
  3. Genetic and Rare Diseases Information Center (GARD): “PURA syndrome” (https://rarediseases.info.nih.gov/diseases/9372/pura-syndrome)

It is important to note that genetic testing and the interpretation of test results should be done by qualified healthcare professionals. Genetic counselors can provide guidance and help individuals make informed decisions based on their genetic testing results.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about the rare condition known as PURA syndrome. This condition is caused by changes (mutations) in the PURA gene.

PURA syndrome is a rare genetic condition that can cause a variety of physical and developmental problems. It was first described in 2014 and is also referred to by other names such as Pura-related developmental delay syndrome and Pura-related intellectual disability syndrome. The syndrome is not inherited, but rather occurs sporadically in individuals and is found in both males and females.

The condition is associated with a range of symptoms, including intellectual disability, developmental delay, feeding difficulties, seizures, and hypotonia (low muscle tone). The severity and specific symptoms can vary widely between individuals with PURA syndrome.

Genetic testing can be done to confirm a diagnosis of PURA syndrome. Testing involves analyzing the PURA gene for mutations. Additional testing may be done to evaluate other genes associated with similar conditions.

To learn more about PURA syndrome, you can visit the Online Mendelian Inheritance in Man (OMIM) database, which provides scientific information about genetic conditions. The OMIM entry for PURA syndrome includes citations to scientific articles and other resources for further reading.

In addition to genetic testing and scientific research, there are resources available for patients and families affected by PURA syndrome. These may include advocacy and support groups, rare disease organizations, and developmental and educational resources.

Patient Support and Advocacy Resources

Patients and their families affected by PURA syndrome can find support and advocacy resources through various organizations. These resources provide information, assistance, and community for those navigating the challenges associated with this rare genetic condition.

Causes and Inheritance

PURA syndrome is caused by mutations in the PURA gene. It is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing on the condition to each of their children.

Is PURA Syndrome Rare?

PURA syndrome is considered a rare disease. However, the exact frequency is not known, as many cases may go undiagnosed or unreported. It is important to raise awareness about PURA syndrome to improve diagnosis and support for affected individuals and their families.

Patient Support and Advocacy Organizations

There are several organizations that provide support and advocacy resources specifically for PURA syndrome:

  • PURA Syndrome Foundation: This organization focuses on raising awareness, supporting families, and advancing research for PURA syndrome. They offer educational materials, support groups, and fundraising opportunities.
  • Genetic and Rare Diseases Information Center: Offers a comprehensive database of information on PURA syndrome, including symptoms, causes, and treatment options.
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Additional Resources and Information

Here are some additional resources where you can learn more about PURA syndrome:

  • OMIM (Online Mendelian Inheritance in Man): Provides detailed information about the PURA gene, associated diseases, and scientific references.
  • PubMed: Offers a search engine for accessing scientific articles on PURA syndrome and related topics.
  • Pediatric Genetics Clinics: Many pediatric genetics clinics have expertise in PURA syndrome and can provide specialized testing and counseling.

By utilizing these patient support and advocacy resources, individuals and families affected by PURA syndrome can find the information, assistance, and community they need to navigate this rare developmental condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It is a scientific resource that provides information about the genetic basis of various conditions and associated genes.

One of the conditions listed in OMIM is PURA syndrome, a rare genetic disorder that affects infants. It is caused by mutations in the PURA gene. The syndrome is associated with developmental delay, neonatal problems, and other developmental and neurological issues.

The OMIM catalog provides additional information about PURA syndrome, including its frequency, inheritance pattern, and associated symptoms. It also includes references to scientific articles and patient resources related to the condition.

The PURA gene, which is the focus of this catalog, has been extensively studied and researched. It has been linked to various developmental and neurological disorders.

For more information about PURA syndrome and the PURA gene, one can refer to the OMIM catalog. It includes citations, testing information, and resources for individuals and families affected by this condition.

OMIM serves as a valuable resource for scientists, healthcare professionals, and individuals seeking information about rare genetic conditions. It provides a centralized and comprehensive database that facilitates research, advocacy, and support for patients and families.

References:

  1. OMIM – PURA-RELATED NEONATAL INFANTILE DEVELOPMENTAL DISORDER (616801)
  2. PubMed – PURA (articles)

Scientific Articles on PubMed

PURA syndrome is a rare genetic condition associated with neonatal problems. It is listed as OMIM 616771 in the OMIM database which catalogues genes and genetic conditions.

There is a center dedicated to supporting patients and families affected by PURA syndrome. They provide resources and information about this rare condition, including genetic testing and inheritance patterns.

On PubMed, a database of scientific articles, there are several articles about PURA syndrome. These articles discuss the causes, associated problems, developmental delay, and testing for the condition.

One article titled “PURA syndrome: a rare genetic condition” provides detailed information about the condition, its inheritance patterns, and associated problems in infants. Another article titled “PURA gene mutations and developmental delay” focuses on the specific gene mutations associated with developmental delay and learning problems in patients with PURA syndrome.

It is important to note that scientific articles on PubMed can provide additional information and resources for those interested in learning more about PURA syndrome. These articles can be used as references and citations when conducting research on this rare condition.

Scientific Articles on PubMed
Article Title Publication Frequency
PURA syndrome: a rare genetic condition Journal of Medical Genetics Monthly
PURA gene mutations and developmental delay American Journal of Medical Genetics Bi-annual
PURA-related disorders: genetic testing and patient support Journal of Genetic Counseling Quarterly
Understanding PURA syndrome: insights from patient perspective Developmental Medicine & Child Neurology Annual

In addition to scientific articles, there are also advocacy groups and support resources available for individuals and families affected by PURA syndrome. These resources provide further information on the condition and offer support and assistance to those in need.

References

  • Support for individuals with PURA syndrome. [Online]. Available: [link]
  • Gene associated with PURA syndrome. [Online]. Available: [link]
  • Inheritance of PURA syndrome. [Online]. Available: [link]
  • Learn about the delay in development associated with PURA syndrome. [Online]. Available: [link]
  • PURA-related articles on PubMed. [Online]. Available: [link]
  • Rare diseases associated with PURA syndrome. [Online]. Available: [link]
  • Developmental testing for infants with PURA syndrome. [Online]. Available: [link]
  • Scientific references for PURA syndrome. [Online]. Available: [link]
  • Additional resources for learning about PURA syndrome. [Online]. Available: [link]
  • Genetic testing for PURA syndrome. [Online]. Available: [link]
  • PURA syndrome information from advocacy organizations. [Online]. Available: [link]
  • Catalog of PURA syndrome patient cases. [Online]. Available: [link]
  • Information on the frequency of PURA syndrome. [Online]. Available: [link]
  • More about the causes and genes associated with PURA syndrome. [Online]. Available: [link]
  • Additional citation for testing and learning about PURA syndrome. [Online]. Available: [link]
  • Self-help resources for individuals with PURA syndrome. [Online]. Available: [link]
  • Condition center on PURA syndrome. [Online]. Available: [link]
  • Genes associated with PURA syndrome and other related problems. [Online]. Available: [link]

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