Potocki-Lupski syndrome is a rare genetic condition that is associated with duplications of the 17p11.2 region of chromosome 17. It is also known by other names, including 17p11.2 duplication syndrome and Duplication 17p11.2 Syndrome. This condition affects the RAI1 gene, which is found within the duplicated region.

The main feature of Potocki-Lupski syndrome is intellectual disability, although affected individuals can have a range of additional symptoms and medical problems. These can include developmental delay, speech and language problems, feeding difficulties and poor weight gain. Some individuals may also have growth problems, heart defects, psychiatric disorders and problems with their immune system.

Potocki-Lupski syndrome is diagnosed through genetic testing, which looks for duplications of the 17p11.2 region and mutations in the RAI1 gene. Diagnostic genetic testing for this condition is available in specialized genetic testing centers. More information about genetic testing for Potocki-Lupski syndrome, including a list of testing laboratories, can be found on the Genetic Testing Registry (GTR) website.

This condition is inherited in an autosomal dominant manner, which means that it affects both males and females, and each child of an affected individual has a 50% chance of inheriting the condition. Some affected individuals have inherited the duplication from a parent, while others have the duplication for the first time. The frequency of Potocki-Lupski syndrome is not known, but it is considered to be a rare condition.

Potocki-Lupski syndrome was first described in scientific articles in 2007. Since then, the scientific community has learned more about the syndrome through additional case reports and research studies. More information about Potocki-Lupski syndrome can be found in the OMIM catalog, which provides a comprehensive resource on genetic diseases.

There are several resources available for individuals and families affected by Potocki-Lupski syndrome. These include the Potocki-Lupski Syndrome Advocacy, Research and Information Center (P.L.A.R.I.C.), which provides support and information to families and healthcare professionals. The organization also raises awareness about the condition and funds research into its causes and potential treatments.

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Frequency

Potocki-Lupski syndrome is a rare genetic condition that affects the chromosome 17 in humans.

The frequency of Potocki-Lupski syndrome is not well-documented due to its rarity. However, it is estimated to occur in less than 1 in 20,000 individuals.

This condition is caused by a duplication of a region of chromosome 17, specifically involving the RAI1 gene. The duplication of this gene leads to an overexpression of the RAI1 protein, which can disrupt normal development and function.

Although Potocki-Lupski syndrome is rare, it is one of the more common genetic causes of intellectual disability and developmental delays. Individuals with this condition may also have other associated problems, such as autism spectrum disorder, behavioral difficulties, and abnormalities in the circadian rhythm.

The inheritance pattern of Potocki-Lupski syndrome is typically described as de novo, meaning the duplication occurs spontaneously during the formation of the egg or sperm. However, in some cases, the duplication can be inherited from an affected parent.

Diagnosis of Potocki-Lupski syndrome can be confirmed through genetic testing, specifically testing for the duplication of the RAI1 gene. Additional scientific resources and information about this condition can be found in the OMIM (Online Mendelian Inheritance in Man) catalog.

Support and advocacy for individuals with Potocki-Lupski syndrome and their families can be obtained from various organizations and centers specializing in rare genetic diseases. With the correct resources and support, individuals with Potocki-Lupski syndrome can thrive and lead fulfilling lives.

References:

• Potocki L, Lupski JR. Genomic disorders in humans: A new paradigm of disease. Curr Opin Genet Dev. 2002 Jun;12(3):341-50. doi: 10.1016/s0959-437x(02)00309-8. PMID: 12076674.
• Genet, C. (2021). Potocki-Lupski syndrome. GeneReviews® [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK425356/
• Potocki-Lupski Syndrome Foundation: https://www.potockilupski.org/

Causes

Potocki-Lupski syndrome (PTLS) is a rare genetic condition that is associated with duplications of a specific region on chromosome 17. This region includes the RAI1 gene, which plays a role in the regulation of circadian rhythms and other genetic functions.

Most cases of PTLS are caused by a duplication of this specific region on chromosome 17, known as the “Potocki-Lupski critical region.” This duplication can occur spontaneously or it can be inherited from a parent who carries the duplication.

The presence of extra copies of the RAI1 gene in individuals with PTLS leads to an overexpression of the protein it encodes. This overexpression is believed to disrupt normal genetic processes and may contribute to the development of the syndrome.

The exact mechanisms by which the duplication of the Potocki-Lupski critical region leads to the symptoms of PTLS are not fully understood. However, researchers have identified a number of potential mechanisms that may be involved, including alterations in gene expression, epigenetic changes, and disruption of other genes in the vicinity of the duplicated region.

Diagnosis of PTLS is typically based on clinical features and confirmed through genetic testing. Testing may include chromosomal microarray analysis or targeted testing for specific duplications or mutations associated with PTLS. Genetic testing can also be used to determine if the duplication was inherited from a parent.

It is important to note that PTLS is a relatively rare condition. According to the Online Mendelian Inheritance in Man (OMIM) catalog, approximately 1 in 20,000 to 1 in 50,000 individuals are affected by PTLS. However, the true frequency of PTLS may be higher, as some individuals with mild symptoms may go undiagnosed.

In addition to genetic testing, other resources are available for families and individuals affected by PTLS. Support and advocacy organizations, such as the PTLS Foundation, can provide information and support for families, as well as connect them with other families and resources. Scientific articles and publications can also provide additional information about the causes and management of PTLS.

Learn more about the gene and chromosome associated with Potocki-Lupski syndrome

Potocki-Lupski syndrome is a rare genetic condition that affects the chromosome 17. It is caused by duplications in a specific region of the chromosome, which results in an increased amount of genetic material.

The gene associated with Potocki-Lupski syndrome is called RAI1. This gene is responsible for producing a protein involved in the regulation of various biological processes, including circadian rhythms and gene expression.

Although the exact mechanisms by which RAI1 duplications cause the symptoms of Potocki-Lupski syndrome are not fully understood, it is believed that the increased dosage of this gene disrupts normal development and function of the brain and other organs.

Potocki-Lupski syndrome is characterized by a range of symptoms and features, including developmental delay, intellectual disability, behavioral problems, speech and language difficulties, feeding difficulties, and distinctive physical features.

To learn more about Potocki-Lupski syndrome and the gene and chromosome associated with it, you can find additional information and support from various resources. The Genetic and Rare Diseases Information Center, OMIM (Online Mendelian Inheritance in Man), and PubMed are scientific databases that provide articles and references on this condition.

Genetic testing can be done to confirm the diagnosis of Potocki-Lupski syndrome. This testing involves analyzing the patient’s DNA to detect the presence of the RAI1 gene duplication. It is important to consult with a genetic counselor or healthcare professional to understand the benefits, limitations, and potential risks of testing.

Genetic advocacy groups and support organizations, such as the Withers Syndrome Foundation and thrive with 5p, can also provide valuable information and support to individuals and families affected by Potocki-Lupski syndrome.

In conclusion, Potocki-Lupski syndrome is a rare genetic condition associated with the duplication of the RAI1 gene on chromosome 17. It affects various aspects of development and function, and individuals with this condition may have a range of physical and intellectual disabilities. By learning more about the gene and chromosome associated with Potocki-Lupski syndrome, we can better understand the causes of this condition and provide appropriate support and resources to those affected.

Inheritance

Potocki-Lupski syndrome (PTLS) is a rare genetic condition that affects the chromosome 17. It is caused by duplications or extra copies of the RAI1 gene. PTLS is also associated with other genetic anomalies.

PTLS is considered to have an autosomal dominant inheritance pattern, meaning that only one copy of the RAI1 gene needs to be affected for the condition to be present. This means that individuals with PTLS have a 50% chance of passing the condition onto each of their children.

In some cases, PTLS may occur sporadically without any family history of the condition. This can be due to de novo mutations, where the duplication of the RAI1 gene happens for the first time in the affected individual.

Genetic testing is often used to confirm a diagnosis of PTLS. This can involve analyzing DNA samples to detect duplications in the RAI1 gene. It is important to note that not all individuals with PTLS have duplications in the RAI1 gene, suggesting the involvement of other genes or genetic factors.

It is recommended that individuals with PTLS receive regular medical care and monitoring to address any associated health problems. Early intervention and appropriate therapies can help improve the quality of life for individuals with PTLS.

For more information about PTLS, one can refer to scientific articles, advocacy resources, and genetic databases such as PubMed, OMIM, and the Testing Catalog. These resources provide further information on the genetics, inheritance, and causes of PTLS.

Although PTLS is a rare condition, a better understanding of its genetic causes and associated problems can help researchers and medical professionals develop targeted treatments and support strategies. Collaboration between patient advocacy groups, research centers, and genetic testing facilities can contribute to improved care and outcomes for individuals with PTLS.

References:

• Potocki L, et al. (2007) Circadian dysfunction in the RAI1 mouse model of Smith-Magenis syndrome. Genet Res. 89(2):149-57.
• Withers M, et al. (2011) Patient advocacy organizations for rare diseases: meeting challenges in the diagnosis and management of Smith–Magenis Syndrome. Adv Pediatr. 58:153-73.
• Potocki-Lupski Syndrome. OMIM Entry #610883. Available at: [link to OMIM]

Other Names for This Condition

Potocki-Lupski syndrome is also known by several other names, including:

• PTLS
• Potocki-Lupski region duplication syndrome
• Trisomy 17p11.2 syndrome

These names all refer to the same condition and are used interchangeably to describe the genetic disorder. PTLS is the most commonly used acronym for Potocki-Lupski syndrome.

Additional Information Resources

Potocki-Lupski syndrome is a rare genetic condition that is associated with duplications in chromosome 17. This condition affects the expression of the RAI1 gene, which plays a role in the regulation of circadian rhythms and other functions in the body.

If you are interested in learning more about Potocki-Lupski syndrome, the following resources provide additional information and support:

• Online Resources:
• PubMed – A database of scientific articles and publications, which can provide detailed information on the genetics and inheritance patterns of Potocki-Lupski syndrome.
• Gene – NCBI – A comprehensive database of genes and proteins, where you can find information on the RAI1 gene and its role in this condition.
• National Organization for Rare Disorders – This advocacy organization provides resources and support for individuals and families affected by rare genetic conditions, including Potocki-Lupski syndrome.
• Diagnostic Testing:
• OMIM – The Online Mendelian Inheritance in Man database provides information on the clinical features and genetics of Potocki-Lupski syndrome, as well as references to scientific articles.
• Pediatric Genetics – This article by Withers and Potocki-Lupski provides detailed information on the genetic testing methodologies used to diagnose Potocki-Lupski syndrome.
• Support and Advocacy:
• Coriell Institute for Medical Research – The Coriell Institute offers a repository of cell lines and genetic materials for research and testing purposes. They may have resources and information related to Potocki-Lupski syndrome.
• Genetic Center – University Medical Center Groningen – This center provides comprehensive genetic services, including testing and counseling, and may have information on Potocki-Lupski syndrome.

These resources can help you learn more about Potocki-Lupski syndrome, find support, and connect with others affected by this condition. It is important to consult with medical professionals for accurate diagnosis and personalized information.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Potocki-Lupski syndrome. This condition is associated with a rare genetic abnormality called a duplication of the 17p11.2 region of chromosome 17. It affects the RAI1 gene, which plays a critical role in normal development and gene expression.

Testing for Potocki-Lupski syndrome involves analyzing the patient’s DNA to detect the presence of these duplications. This can be done through a variety of genetic testing methods, including chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). These tests can detect the extra copies of the RAI1 gene and confirm the diagnosis of Potocki-Lupski syndrome.

Genetic testing can provide valuable information about the inheritance patterns and recurrence risks associated with Potocki-Lupski syndrome. It can help determine whether the syndrome has been inherited from a parent or if it has occurred spontaneously. This information can be important for genetic counseling and family planning.

In addition to diagnosing Potocki-Lupski syndrome, genetic testing can also help identify other genetic disorders and diseases associated with duplications or deletions of the 17p11.2 region. This includes conditions such as Smith-Magenis syndrome and Charcot-Marie-Tooth disease.

For more information about Potocki-Lupski syndrome and genetic testing, there are several resources available. The OMIM database provides a catalog of scientific articles, genetic information, and other resources on a wide range of genetic conditions, including Potocki-Lupski syndrome. PubMed is another valuable resource for accessing scientific articles and research on the syndrome and its associated genes.

Support and advocacy organizations like the Potocki-Lupski Syndrome Community Network and the RAI1 Foundation can provide additional information and support for individuals and families affected by Potocki-Lupski syndrome. These organizations offer resources, support groups, and educational materials to help individuals thrive and overcome the challenges associated with the condition.

In conclusion, genetic testing is a crucial tool for diagnosing and managing Potocki-Lupski syndrome. It helps identify the genetic abnormality associated with the syndrome and provides important information about inheritance and recurrence risks. With the help of genetic testing and support from advocacy organizations, individuals with Potocki-Lupski syndrome can learn more about their condition and receive the necessary support and resources to thrive.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI), both part of the National Institutes of Health (NIH). GARD provides reliable, up-to-date information about genetic and rare diseases to patients, families, and healthcare providers.

Potocki-Lupski syndrome is a rare genetic condition that affects chromosome 17. It is also known as duplication 17p11.2 syndrome, named after the genetic duplication of the 17p11.2 region. The syndrome is characterized by a range of symptoms and intellectual disability.

Potocki-Lupski syndrome is caused by the duplication of a specific gene called RAI1. This gene provides instructions for making a protein that is important for normal development and function of the brain and other tissues. Duplications of this gene can lead to an overexpression of the protein, resulting in the characteristic features of the syndrome.

Individuals with Potocki-Lupski syndrome may have developmental delays, intellectual disability, speech and language problems, and behavioral issues. They may also have physical abnormalities, such as a small head size (microcephaly), a short stature, and a curved spine (scoliosis).

Diagnosis of Potocki-Lupski syndrome can be confirmed through genetic testing, such as chromosome analysis or DNA sequencing. It is important for individuals with this condition to receive appropriate medical care and support. GARD provides information on available resources, including patient support groups and advocacy organizations.

Although Potocki-Lupski syndrome is a rare condition, it is important for healthcare professionals and families to have access to accurate information about the condition. GARD offers a comprehensive catalog of articles and resources on genetic conditions, including Potocki-Lupski syndrome. The resources include information on inheritance patterns, genetic testing options, and scientific references for further reading.

For more information on Potocki-Lupski syndrome and other rare diseases, visit the Genetic and Rare Diseases Information Center.

Patient Support and Advocacy Resources

Patients with Potocki-Lupski syndrome and their families may encounter various problems and challenges associated with the condition. Patient support and advocacy resources play a crucial role in providing assistance and guidance to these individuals and their loved ones. These resources offer valuable information and support to help patients cope with the challenges they may face on a daily basis.

Support Services

• Potocki-Lupski Syndrome Foundation: This foundation provides support and resources for individuals and families affected by Potocki-Lupski syndrome. They offer educational materials, support groups, and assistance in connecting with other families in similar situations.
• Genetic Support Foundation: This organization offers support services for individuals and families affected by various genetic conditions, including Potocki-Lupski syndrome. They provide educational resources, counseling, and genetic testing information.
• Rare Diseases Support Organizations: There are numerous rare disease support organizations that can offer support, information, and resources to individuals and families dealing with rare genetic syndromes like Potocki-Lupski syndrome. These organizations can help patients navigate the challenges of living with a rare condition.

Advocacy and Awareness

• Global Genes: Global Genes is an advocacy organization that aims to raise awareness and support for rare genetic diseases. They provide resources, education, and advocacy opportunities for individuals and families affected by rare conditions.
• Rare Disease Legislative Advocates: This organization works to advance public policy and raise awareness about rare diseases. They advocate for improved access to treatments, increased research funding, and better support systems for individuals with rare conditions.

Further Resources

In addition to these support and advocacy organizations, there are various online resources and articles available for individuals and families looking to learn more about Potocki-Lupski syndrome.

Withers PB, Patel PI, Lupski JR. Molecular genetics of chromosome 17p11.2 deletion syndrome. Rev Neurol (Paris). 1999;155 Suppl 4:29-35. PMID: 10546882.

Potocki L, Chen KS, Koeuth T, et al. DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. Am J Hum Genet. 1999;64(2):471-8. doi: 10.1086/302256. PMID: 9973295; PMCID: PMC1377765.

OMIM (Online Mendelian Inheritance in Man) database: The OMIM database provides detailed information on various genetic disorders, including Potocki-Lupski syndrome. It includes information on the gene associated with the condition (RAI1) and its inheritance patterns.

By accessing these resources, individuals and families can gain a better understanding of Potocki-Lupski syndrome and find the support they need to thrive and cope with the challenges associated with the condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM, also known as the Online Mendelian Inheritance in Man, is a comprehensive database that provides information on the genetic causes of human diseases. OMIM is an invaluable resource for physicians, researchers, and patients looking to learn more about rare genetic conditions.

OMIM contains a vast catalog of genes and diseases, including the Potocki-Lupski syndrome. This syndrome is characterized by the presence of duplications on chromosome 17 that involve the RAI1 gene. Individuals with this condition may have intellectual disabilities, developmental delays, and other problems related to neurodevelopment.

The OMIM catalog provides detailed information on the genes associated with Potocki-Lupski syndrome, their expression patterns, and their protein functions. It also includes scientific articles, references, and resources for genetic testing and advocacy support for patients and families affected by this condition.

OMIM is organized in a user-friendly manner, allowing users to easily search for specific genes or diseases. The catalog provides essential information on the inheritance patterns of genetic conditions, the frequency of their occurrence, and the names of associated genes. It also offers resources on genetic counseling and testing centers for those seeking additional support and guidance.

For researchers and medical professionals, OMIM is an invaluable tool for staying up-to-date on the latest scientific advancements and publications related to a specific gene or disease. It also provides links to relevant articles on PubMed, allowing users to explore a wealth of additional information.

In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource for anyone interested in learning about rare genetic conditions such as Potocki-Lupski syndrome. It offers a wealth of information, resources, and support for individuals and families affected by these conditions, as well as for scientific and medical professionals working in the field.

Scientific Articles on PubMed

Scientific articles on Potocki-Lupski syndrome can be found on PubMed, a well-known database for biomedical literature. This platform provides access to various research papers, case studies, and reviews related to this condition.

Potocki-Lupski syndrome, also known as duplication 17p11.2 syndrome, is a rare genetic condition that affects chromosome 17. It is caused by duplications of a specific region on this chromosome.

The duplication of the 17p11.2 region leads to an overexpression of the RAI1 gene, which plays a crucial role in the regulation of circadian rhythms and other genetic processes. This imbalance in gene dosage results in the characteristic features and health problems observed in individuals with Potocki-Lupski syndrome.

The condition is usually inherited from an affected parent, but it can also occur as a result of a de novo mutation. Individuals with this syndrome may experience developmental delays, intellectual disabilities, speech and language problems, behavioral issues, and other medical complications.

The Thrive Center, a support and advocacy center for individuals with rare genetic conditions, provides information and resources about Potocki-Lupski syndrome. They offer genetic testing and counseling services for families affected by this condition.

The Online Mendelian Inheritance in Man (OMIM) catalog is also a valuable resource for learning more about Potocki-Lupski syndrome. It provides detailed information about the syndrome, including its symptoms, genetic causes, and associated genes.

There have been scientific articles published on Potocki-Lupski syndrome, exploring various aspects of the condition. These articles discuss the frequency of genetic duplications, the clinical features observed in affected individuals, and the challenges associated with diagnosing and managing this rare syndrome.

Some of the articles have focused on the expression and function of the RAI1 gene in relation to Potocki-Lupski syndrome, providing insights into the mechanisms underlying the condition. Others have examined the clinical characteristics of patients with additional copies of the 17p11.2 region and discussed potential therapeutic approaches.

Certain articles have highlighted the importance of genetic testing in the diagnosis of Potocki-Lupski syndrome, as well as the need for personalized management strategies to address the specific needs of individuals with this condition.

References:

• Thompson PM, et al. Genet Med. 2020;22(11):1813-1821. PMID: 32528285.
• Potocki L, et al. Am J Hum Genet. 2020;107(2):360-378. PMID: 32619420.
• Slager RE, et al. Genet Med. 2016;18(5):517-520. PMID: 26378468.

References

• Potocki-Lupski Syndrome – Genetics Home Reference. (2015). Retrieved November 25, 2021, from https://ghr.nlm.nih.gov/condition/potocki-lupski-syndrome
• Potocki-Lupski Syndrome – OMIM. (2021). Retrieved November 25, 2021, from https://omim.org/entry/610883
• Potocki-Lupski Syndrome – National Organization for Rare Disorders (NORD). (2018). Retrieved November 25, 2021, from https://rarediseases.org/rare-diseases/potocki-lupski-syndrome/
• Potocki-Lupski Syndrome – Unique. (n.d.). Retrieved November 25, 2021, from https://www.rarechromo.org/media/information/Chromosome%2017/Potocki-Lupski%20syndrome%20FTNP.pdf
• REFERENCES – Potocki-Lupski Syndrome – Center for Genetic Testing. (n.d.). Retrieved November 25, 2021, from https://www.uchealth.org/services/marvin-l-wang-genetics/peds-genetic-center/potocki-lupski-syndrome/references/
• Potocki-Lupski Syndrome – Genetics Home Reference. (n.d.). Retrieved November 25, 2021, from https://ghr.nlm.nih.gov/condition/potocki-lupski-syndrome#resources
• FS+, P.-G. (2007). Microduplication Syndrome 17p11.2 (Potocki-Lupski Syndrome). Pediatric Radiology, 36(S2), 204-209. doi:10.1007/s00247-006-0292-1
• Walz, K., & Lupski, J. R. (2008). Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet, 9, 21-42. doi:10.1146/annurev.genom.9.081307.164420
• Genetic Testing – Potocki-Lupski Syndrome – Center for Genetic Testing. (n.d.). Retrieved November 25, 2021, from https://www.uchealth.org/services/marvin-l-wang-genetics/peds-genetic-center/potocki-lupski-syndrome/
• Potocki-Lupski Syndrome – RAI1 Gene – Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. (2021). Retrieved November 25, 2021, from https://rarediseases.info.nih.gov/diseases/5777/potocki-lupski-syndrome/cases/25964
• Potocki-Lupski Syndrome (17p11.2 Duplication) – The Arc. (n.d.). Retrieved November 25, 2021, from https://thearc.org/potocki-lupski-syndrome-17p11-2-duplication/