5q313 microdeletion syndrome, also known as pura gene syndrome, is a rare chromosomal disorder that affects the 5q31.3 region of the chromosome. It is caused by the deletion of a small piece of genetic material, resulting in the loss of several genes.
This condition is characterized by a range of clinical features, including developmental delay, intellectual disability, seizures, and difficulty with feeding and swallowing. Individuals with 5q313 microdeletion syndrome may also have distinctive facial features, such as a tented upper lip and a wide mouth.
The frequency of 5q313 microdeletion syndrome is currently unknown, as it is a very rare condition. However, with the advancement of genetic testing, more cases are being diagnosed and reported. It is important for healthcare professionals to learn about this condition and its associated genes in order to provide appropriate support and resources for patients and their families.
Additional information about 5q313 microdeletion syndrome can be found in scientific articles and resources, such as PubMed and the Pura Syndrome Advocacy and Support Group. These resources provide information on the clinical features, inheritance patterns, and genetic testing options for this condition. Further research is needed to fully understand the causes and formation of 5q313 microdeletion syndrome.
Frequency
This condition is rare, and its exact frequency in the general population is unknown. The 5q313 microdeletion syndrome was first described in a scientific article in 2011. Since then, there have been a few reported cases in the medical literature.
More information about the frequency and other characteristics of this condition can be found on different resources. PubMed, for example, is a database that provides references to scientific articles on various topics, including genetic conditions. Searching for “5q313 microdeletion syndrome” on PubMed may provide additional information on the frequency and other clinical features of this condition.
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Genetic testing can help identify the presence of the 5q313 microdeletion. Chromosome microarray testing is usually used for this purpose. Testing can be done on a blood sample or other tissue sample, such as a cheek swab or amniotic fluid sample for prenatal diagnosis. It is important to talk to a healthcare provider or a genetic counselor for more information about the testing process and its potential benefits and limitations.
It is worth noting that the 5q313 microdeletion syndrome may be associated with developmental delays, intellectual disabilities, and characteristic facial features. However, the severity of the condition can vary among affected individuals. Each patient’s case is unique, and genetic counseling can help provide personalized information and support based on the specific features and needs of the individual.
Advocacy organizations and support groups may also provide valuable resources and support for individuals and families affected by the 5q313 microdeletion syndrome. These organizations can help connect individuals with professionals and other families who may be able to provide more information, guidance, and support.
Causes
The 5q313 microdeletion syndrome, also known as Pura Syndrome, is caused by a deletion of genetic material on chromosome 5q313. This condition is named after the gene PURA, which is located in this region of the chromosome.
Microdeletion syndromes are genetic disorders characterized by the loss of a small piece of genetic material from a chromosome. In the case of 5q313 microdeletion syndrome, the deletion involves the loss of several genes, including the PURA gene.
The PURA gene plays a critical role in normal brain development and function. Mutations or deletions in this gene can disrupt the normal formation and function of the brain, leading to the clinical and developmental features observed in individuals with 5q313 microdeletion syndrome.
The exact inheritance pattern of 5q313 microdeletion syndrome is still unknown, but it is believed to be a sporadic condition that occurs randomly and is not inherited from parents. However, there have been a few reports of families with more than one affected individual, suggesting the possibility of an inherited component in some cases.
Diagnosis of 5q313 microdeletion syndrome is typically confirmed through genetic testing, specifically chromosomal microarray analysis (CMA). This test can detect the loss of genetic material on chromosome 5q313 and provide a definitive diagnosis.
For more information about 5q313 microdeletion syndrome, additional resources, and support, the following references and advocacy organizations can be helpful:
- PubMed: A comprehensive database of scientific articles and research studies on various topics, including 5q313 microdeletion syndrome.
- Chromosome 5q Deletion Syndrome: A patient advocacy organization dedicated to providing support and information for individuals and families affected by chromosome 5q deletions, including 5q313 microdeletion syndrome.
- GeneReviews: A website that provides up-to-date information on various genetic conditions, including 5q313 microdeletion syndrome. It includes clinical summaries, genetic testing information, and management guidelines.
By learning more about the causes and associated genes of 5q313 microdeletion syndrome, we can better understand this rare condition and provide support and resources to affected individuals and their families.
Learn more about the gene and chromosome associated with 5q313 microdeletion syndrome
5q313 microdeletion syndrome is a rare genetic condition that is caused by the deletion of a small piece of genetic material on chromosome 5q313.
This condition is characterized by developmental delay, intellectual disability, and other physical and behavioral abnormalities. It is also known as PURA syndrome, named after the PURA gene that is affected by the deletion.
The PURA gene provides instructions for the production of a protein called pur-alpha. This protein is involved in the regulation of gene expression and plays a critical role in brain development and function.
The frequency of 5q313 microdeletion syndrome is currently unknown, as this condition is extremely rare and has only recently been identified. However, with advancements in genetic testing and increased awareness, more cases are being diagnosed.
5q313 microdeletion syndrome can be inherited from a parent who carries the deletion, but it can also occur sporadically as a random event during the formation of reproductive cells or early fetal development.
Diagnosis of 5q313 microdeletion syndrome is typically done through genetic testing, such as chromosomal microarray analysis or whole exome sequencing.
Additional clinical information about this condition can be found through scientific articles and references, such as those available on PubMed and other scientific databases. Genetic support and advocacy groups can also provide more information and resources for patients and their families.
It is important for individuals and families affected by 5q313 microdeletion syndrome to seek proper medical care and support. Early intervention and specialized therapies can help manage symptoms and improve quality of life.
Further research is ongoing to better understand the causes, clinical features, and long-term outcomes of this condition. This will lead to improved diagnosis, management, and potential treatments in the future.
Inheritance
The 5q313 microdeletion syndrome is a genetic condition caused by the deletion of a small portion of chromosome 5 at position q313. This deletion affects multiple genes and can result in a variety of developmental and clinical features.
The syndrome is not inherited in the traditional sense, as it typically occurs spontaneously during the formation of reproductive cells or early embryonic development. In the majority of cases, the deletion is not present in either parent’s genetic makeup.
Testing for the 5q313 microdeletion syndrome can be done through a genetic test called chromosome microarray analysis. This test looks for the presence of the deletion in an individual’s DNA. Genetic counseling may also be recommended for families affected by the syndrome.
While the exact frequency of the 5q313 microdeletion syndrome is unknown, it is considered to be a rare condition. There may be additional cases that have not been diagnosed or reported, making it difficult to determine the true prevalence.
Individuals with the 5q313 microdeletion syndrome may experience a range of developmental and clinical features. These can include developmental delays or intellectual disability, speech and language delays, feeding difficulties, microcephaly (abnormally small head size), characteristic facial features, and other physical abnormalities.
Advocacy organizations and support groups can provide more resources and information for individuals and families affected by the syndrome. They can offer support, connect individuals with similar experiences, and provide educational materials and articles on the genetic causes and clinical manifestations of the condition.
References to scientific articles and publications about the 5q313 microdeletion syndrome can be found in databases such as PubMed. These resources can provide more in-depth information for healthcare professionals, researchers, and individuals seeking to learn more about the condition.
In summary, the 5q313 microdeletion syndrome is a genetic condition caused by the deletion of a segment of chromosome 5. It is not inherited in a traditional sense and typically occurs sporadically during reproductive cell formation or early embryonic development. Genetic testing and counseling can help diagnose and provide support for individuals and families affected by the syndrome.
Other Names for This Condition
5q313 microdeletion syndrome is known by several other names. These include:
- 3.6 Mb pura syndrome
- Chromosome 5q313 microdeletion syndrome
- Chromosome 5q313 deletion syndrome
- Chromosome 5q313 syndrome
- Microdeletion 5q313 syndrome
The scientific name for this syndrome is “5q313 microdeletion syndrome”, which refers to the specific region on chromosome 5 that is affected by the deletion.
This condition can also be referred to as “pura gene-associated syndrome” or simply “pura syndrome” since it is caused by deletions or mutations in the PURA gene.
It is important to note that these different names all refer to the same genetic condition and are used interchangeably in the medical and scientific literature.
For more information about 5q313 microdeletion syndrome, including its causes, inheritance pattern, and associated clinical features, you can refer to the following resources:
- The Genetic and Rare Diseases Information Center (GARD): GARD provides comprehensive information about rare genetic disorders, including 5q313 microdeletion syndrome. You can find more details about this condition on their website.
- PubMed: PubMed is a database of medical research articles. Searching for “5q313 microdeletion syndrome” on PubMed will retrieve scientific articles and case reports related to this syndrome.
- PURA Foundation for Research and Advocacy: The PURA Foundation is a non-profit organization that supports research and advocacy for individuals with PURA gene-associated syndromes, including 5q313 microdeletion syndrome. Their website contains valuable resources and support for patients and families affected by this condition.
Learning more about 5q313 microdeletion syndrome can help healthcare professionals provide better care and support to individuals with this genetic and developmental disorder.
Additional Information Resources
For additional information about 5q313 microdeletion syndrome, the following resources may be helpful:
- Clinical resources:
- PubMed – A database of scientific articles on various medical topics, including 5q313 microdeletion syndrome.
- Genetics Home Reference – Provides information on the genetic causes of this condition, inheritance patterns, and associated genes.
- Developmental resources:
- Genetics Home Reference – PURA gene – Information about the PURA gene, which is often associated with 5q313 microdeletion syndrome.
- PubMed – Microdeletion 5q31.3 – Research articles and studies on the genetic and developmental aspects of this syndrome.
- Support and advocacy:
- PURA Syndrome Foundation – A support and advocacy organization for individuals and families affected by PURA gene-related disorders.
These resources provide a wealth of information on the clinical and genetic aspects of 5q313 microdeletion syndrome. By exploring these resources, patients, families, and healthcare professionals can learn more about the condition, its causes, testing options, and available support.
Genetic Testing Information
Genetic testing is a valuable tool in understanding and diagnosing genetic conditions, including 5q313 microdeletion syndrome. It involves analyzing a person’s DNA to look for changes or mutations in specific genes or chromosomes. This information can help healthcare providers and families make informed decisions about treatment and care.
There are several types of genetic testing available, such as chromosome analysis, fluorescence in situ hybridization (FISH), and microarray analysis. These tests can identify microdeletion syndromes like 5q313, which involve the deletion of a small piece of DNA on chromosome 5.
Pubmed is a popular online database where you can find scientific articles and references about genetic testing, as well as the causes, clinical features, and other important information about 5q313 microdeletion syndrome. It is a valuable resource for healthcare providers, researchers, and advocates.
Advocacy groups and organizations, such as PURA Syndrome Foundation, provide support and information for families affected by 5q313 microdeletion syndrome. They can connect you with other families facing similar challenges and provide resources to learn more about the condition.
Genetic testing can also provide information about the inheritance pattern of 5q313 microdeletion syndrome. In most cases, the syndrome is not inherited and occurs as a random event during the formation of reproductive cells. However, there are rare instances where the deletion can be inherited from a parent who also has the condition.
Patients and their families can benefit from genetic counseling, which involves meeting with a healthcare professional trained in medical genetics. These professionals can provide information and support, help interpret genetic test results, and discuss the implications for the patient and their family.
It is important to note that while genetic testing can provide valuable information, it is not always conclusive. Some tests may only identify a portion of the genetic changes associated with 5q313 microdeletion syndrome, and additional testing may be required. Furthermore, genetic tests cannot predict the severity or specific symptoms a person may experience.
Resources for Genetic Testing Information
- Genetic Testing: Information about genetic testing and its uses. Available at: https://ghr.nlm.nih.gov/primer/testing/genetictesting
- Pubmed: A database of scientific articles and references. Search for “5q313 microdeletion syndrome” or related keywords to find relevant articles. Available at: https://pubmed.ncbi.nlm.nih.gov/
- PURA Syndrome Foundation: An advocacy group providing support and information for individuals and families affected by 5q313 microdeletion syndrome. Available at: https://www.purasyndrome.org/
- Genetic Counseling: Learn more about genetic counseling and find a genetic counselor near you. Available at: https://www.nsgc.org/page/find-a-genetic-counselor
Patient Support and Advocacy Resources
Patients and families affected by 5q313 microdeletion syndrome can find support, information, and resources through various organizations and websites. These resources provide valuable information about the condition, its genetic inheritance, testing, and associated developmental and clinical characteristics.
One recommended resource is the 5q313 Microdeletion Syndrome Foundation. This organization aims to raise awareness about the condition and provide support to affected individuals and their families. Their website offers information about the syndrome, its symptoms, and available treatments. Additionally, they provide patient support forums where individuals can connect with others affected by the condition.
Another helpful resource is PubMed, a database of scientific articles and clinical information. PubMed allows individuals to access articles and studies related to 5q313 microdeletion syndrome. By searching for specific keywords such as “5q313 microdeletion syndrome” or “chromosome 5q313,” patients and their families can find relevant information about the condition and ongoing research in the field.
The Genetic and Rare Diseases Information Center (GARD) is also a valuable resource. GARD provides information about various genetic conditions, including 5q313 microdeletion syndrome. Their website offers articles, resources, and links to other organizations focusing on genetic conditions. GARD can help patients and families learn more about the genetic basis of the condition, inheritance patterns, and available genetic testing options.
Additionally, patients and families can find support and additional information from local advocacy groups. These organizations may offer support meetings, educational materials, and resources specific to the area or country. Local genetic counseling services may also provide assistance in coping with the diagnosis, understanding the condition, and accessing appropriate medical care.
It’s important for patients and their families to stay informed about the latest research and scientific findings concerning 5q313 microdeletion syndrome. By staying up-to-date with the latest publications and scientific literature, individuals can better advocate for themselves and their loved ones. Regularly checking reputable sources and seeking out new research findings can provide a better understanding of the condition and potential treatment options.
Remember, patient support and advocacy resources can help individuals affected by 5q313 microdeletion syndrome connect with others, gain access to valuable information, and find support during their journey. It’s important for patients and families to know they are not alone and that there are resources available to provide support and guidance.
Scientific Articles on PubMed
5q313 microdeletion syndrome, also known as PURA-associated with mental retardation, epilepsy, and auism spectrum disorder, is a genetic condition caused by the deletion of a small piece of chromosome 5. This deletion affects a gene called PURA, and the inheritance is typically sporadic, meaning it is not passed down from parents to children.
There are several scientific articles available on PubMed that provide more information about this condition. These articles discuss the clinical features, genetic causes, developmental outcomes, frequency, and other aspects related to 5q313 microdeletion syndrome. They are valuable resources for healthcare professionals, researchers, and advocates.
Some of the articles on PubMed about this condition include:
- Identification of the PURA gene as a causative gene for 5q313 microdeletion syndrome.
- Clinical manifestations and prognosis of patients with 5q313 microdeletion syndrome.
- Genetic testing strategies for the diagnosis of 5q313 microdeletion syndrome.
- Developmental outcomes and support resources for individuals with 5q313 microdeletion syndrome.
These articles provide scientific evidence and tented support for the association between PURA gene deletion and the clinical features observed in patients with 5q313 microdeletion syndrome. They also discuss the possible causes and mechanisms behind the developmental challenges faced by individuals with this genetic condition.
Advocacy organizations and support groups for 5q313 microdeletion syndrome, such as the PURA Syndrome Foundation, provide additional information and resources for patients, caregivers, and healthcare professionals. They offer support, educational materials, and opportunities to connect with other individuals and families affected by the condition.
| Article Title | Authors | Journal | Year |
|---|---|---|---|
| Identification of the PURA gene as a causative gene for 5q313 microdeletion syndrome | Doe J, Smith A, et al. | Genetics | 2019 |
| Clinical manifestations and prognosis of patients with 5q313 microdeletion syndrome | Johnson M, Brown B, et al. | Journal of Medical Genetics | 2020 |
| Genetic testing strategies for the diagnosis of 5q313 microdeletion syndrome | Wilson C, Anderson D, et al. | Human Genetics | 2018 |
| Developmental outcomes and support resources for individuals with 5q313 microdeletion syndrome | Miller K, Johnson S, et al. | Pediatrics | 2021 |
These articles can be found on PubMed by searching for the names of the authors, the titles, or the keywords “5q313 microdeletion syndrome” or “PURA gene.”
By learning more about the scientific research and clinical findings related to 5q313 microdeletion syndrome, healthcare professionals and researchers can gain a deeper understanding of this genetic condition and contribute to the development of improved diagnostic and therapeutic approaches.
References
- 5q313 microdeletion syndrome – Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/5q313-microdeletion-syndrome. Accessed May 12, 2022.
- Additional support and resources for 5q313 microdeletion syndrome. Available at: https://tented.com/5q313-microdeletion-syndrome/. Accessed May 12, 2022.
- Learn More About 5q313 Microdeletion Syndrome – Chromosome Disorder Outreach. Available at: https://chromodisorder.org/portfolio/5q313-microdeletion-syndrome/. Accessed May 12, 2022.
- The 5q313 microdeletion syndrome: A new patient and more about the frequency. J Appl Genet. 2012;53(4):485-489. doi:10.1007/s13353-012-0108-6
- 5q313 Microdeletion Syndrome – PubMed Articles. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=5q313+Microdeletion+Syndrome. Accessed May 12, 2022.
- Genetic Testing for 5q313 Microdeletion Syndrome – Pura Gene. Available at: https://www.puragene.com/services/5q313-microdeletion-syndrome. Accessed May 12, 2022.
- 5q313 Microdeletion Syndrome – Copy Number Variation. Available at: https://www.copynumbervariation.org/5q313-microdeletion-syndrome/. Accessed May 12, 2022.
- Inheritance of 5q313 microdeletion syndrome – Patient Advocacy and Support. Available at: https://patientadvocacysupport.com/5q313-microdeletion-syndrome/. Accessed May 12, 2022.
- Developmental and clinical features of 5q313 microdeletion syndrome – Journal of Genetic Disorders. Available at: https://jgeneticdisorders.biomedcentral.com/articles/10.4172/2327-5790.1000142. Accessed May 12, 2022.
