Contents
[hide]
[show]

Smith-Magenis Syndrome (SMS) is a rare genetic condition associated with deletions or mutations in the RAI1 gene. It was first described in the medical literature in 1982 by Drs. Ann C.M. Smith and Robert J. Magenis. The syndrome is named after these two researchers who discovered it. SMS affects approximately 1 in 25,000 individuals, making it a relatively rare condition.

The RAI1 gene is located on chromosome 17 and provides instructions for making a protein that plays a role in various cellular processes. When this gene is altered or missing, it can lead to the distinctive features and medical concerns associated with Smith-Magenis Syndrome. Inheritance of SMS can occur in two ways – either through a deletion in the RAI1 gene inherited from a parent or through a spontaneous mutation that occurs for the first time in the affected individual.

Clinical features of Smith-Magenis Syndrome can include developmental delays, intellectual disability, distinctive facial features, behavioral challenges, sleep disturbances, hearing loss, and short stature. Individuals with SMS often have a strong interest in music and a characteristic behavioral phenotype. They may also exhibit frequent self-injurious behaviors and exhibit a disrupted circadian rhythm.

Diagnosis of Smith-Magenis Syndrome can be confirmed through genetic testing, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA). These tests look for the presence of the RAI1 gene deletion or mutation. Additional clinical testing may be necessary to address specific symptoms or concerns related to the syndrome.

There are resources available to support individuals and families affected by Smith-Magenis Syndrome. Genetic advocacy organizations, such as the Smith-Magenis Syndrome Foundation, provide information, support, and resources for individuals with SMS and their families. Scientific research studies and articles on SMS can be found on databases such as PubMed, OMIM, and ClinicalTrials.gov. These resources provide more information on the causes, clinical features, and management of this rare genetic condition.

Frequency

The Smith-Magenis syndrome is a rare genetic disorder. It is estimated to affect approximately 1 in 15,000 to 25,000 individuals worldwide.

Pre-tax flexible spending accounts (FSAs) are often touted as the answer to high out-of-pocket medical costs, but many FSAs have “use it or lose it” rules. FSA holders lose $50 to $100 per year on average, CBS News reported, but since you’re allowed to contribute up to $2,650, you could risk losing thousands of dollars if you don’t spend your FSA money in time.

The syndrome is typically caused by the deletion of a small piece of genetic material on chromosome 17. This deletion affects the RAI1 gene, which is responsible for regulating the circadian rhythm and other functions in the body.

Studies have shown that about 90% of individuals with Smith-Magenis syndrome have this deletion. In rare cases, the syndrome can also be caused by mutations or other genetic abnormalities involving the RAI1 gene. Less than 10% of cases are caused by other genes or unknown factors.

The inheritance pattern of Smith-Magenis syndrome is usually sporadic, meaning it occurs randomly and is not passed down from parents to children. However, there have been a few reported cases of the syndrome being inherited from an affected parent.

The phenotype of Smith-Magenis syndrome can vary widely from person to person, even within the same family. Common features include intellectual disability, behavioral problems, sleep disturbances, distinctive facial features, and short stature.

Smith-Magenis syndrome is typically diagnosed through genetic testing, such as chromosomal microarray analysis or DNA sequencing. These tests can detect the deletion or mutation in the RAI1 gene. More information about genetic testing for Smith-Magenis syndrome can be found on resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry on the National Institutes of Health’s website.

There is currently no cure for Smith-Magenis syndrome, but there are support and advocacy groups that provide information, resources, and support for individuals and families affected by the condition. Some organizations include the Smith-Magenis Syndrome Foundation and the International Smith-Magenis Syndrome Organization.

ClinicalTrials.gov provides information on ongoing research studies and clinical trials related to Smith-Magenis syndrome. These studies aim to gain a better understanding of the condition and develop potential treatments or interventions.

References and additional information can be found on PubMed, a database of scientific articles, as well as other reputable sources.

Causes

The Smith-Magenis syndrome (SMS) is a rare genetic condition caused by a deletion or mutation in the RAI1 gene on chromosome 17. This gene provides instructions for making a protein that helps regulate the expression of other genes. When a person has a deletion or mutation in the RAI1 gene, it disrupts the normal functioning of these genes, leading to the development of SMS.

The majority of individuals with SMS have a deletion of a small piece of chromosome 17 that contains the RAI1 gene. This deletion typically occurs spontaneously and is not inherited from the parents. However, there have been rare cases where a parent carries a balanced translocation, meaning that they have rearrangements in their chromosomes that do not cause any symptoms in themselves, but can result in a child with SMS if the rearrangement is passed on.

SMS can also be caused by other types of mutations in the RAI1 gene, such as point mutations or small deletions or duplications. These mutations can also be inherited from a parent or occur spontaneously.

Genetic testing can confirm a diagnosis of SMS by identifying the specific genetic abnormality. This can be done through a variety of methods, including chromosomal microarray analysis, fluorescence in situ hybridization (FISH), or DNA sequencing. It is important to note that not all individuals with clinical features of SMS will have detectable mutations in the RAI1 gene, suggesting that there may be other genes involved in the development of this condition.

Research on SMS is ongoing, and scientists are working to learn more about the underlying genetic causes and mechanisms of this syndrome. Understanding the genetic basis of SMS can lead to improved diagnosis and treatment options for individuals with this condition.

For more information about the genetic causes of SMS, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): This catalog of human genes and genetic disorders provides detailed information on the RAI1 gene and its association with SMS. Available at https://www.omim.org/.
  • PubMed: This online database of scientific articles includes numerous publications on the genetics of SMS. Available at https://pubmed.ncbi.nlm.nih.gov/.
  • GeneReviews: This online resource provides comprehensive information on the clinical characteristics, genetic testing, and management of various genetic conditions, including SMS. Available at https://www.ncbi.nlm.nih.gov/books/NBK1310/.
  • ClinicalTrials.gov: This registry of clinical studies provides information on ongoing research and clinical trials related to SMS. Available at https://clinicaltrials.gov/.

Additionally, several patient advocacy organizations provide support, information, and resources for individuals and families affected by SMS. These organizations include the Smith-Magenis Syndrome Foundation and the Rare Diseases Clinical Research Network.

See also  Progressive pseudorheumatoid dysplasia

It is important to work closely with healthcare professionals to ensure appropriate genetic testing and counseling for individuals with SMS and their families.

Learn more about the gene and chromosome associated with Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a rare genetic disorder caused by a deletion or mutation in the RAI1 gene on chromosome 17. This gene provides instructions for making a protein that is essential for normal development and function of the body.

The RAI1 gene is located on the long arm of chromosome 17 (17p11.2). It plays a crucial role in the development of the nervous system, specifically in the regulation of gene expression and the formation of neural connections.

Studies have shown that individuals with SMS have either a deletion of a small piece of chromosome 17p11.2 or a mutation within the RAI1 gene. The loss or alteration of this gene disrupts normal cellular processes and leads to the characteristic features and symptoms of Smith-Magenis syndrome.

The main clinical features of SMS include intellectual disability, distinctive facial features, sleep disturbances, behavioral problems such as self-injurious behaviors and aggression, delayed speech and language development, and skeletal abnormalities.

Smith-Magenis syndrome is considered a contiguous gene syndrome, as the deletion or mutation affects not only the RAI1 gene but also several neighboring genes. The specific role of these genes in the development of the SMS phenotype is still under investigation, and additional research is needed to understand their contribution to the overall clinical picture.

Genetic testing, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), can confirm the diagnosis of SMS by detecting the deletion or mutation in the RAI1 gene or related genes.

For more information about Smith-Magenis syndrome and the associated genes and chromosome, you can refer to the following resources:

By learning more about the genetics and chromosomes associated with Smith-Magenis syndrome, we can better understand the underlying causes of this rare condition and work towards improving diagnosis and treatment options for affected individuals.

Inheritance

Smith-Magenis Syndrome (SMS) is a rare genetic disorder that is typically caused by deletions or mutations in the RAI1 gene on chromosome 17. The syndrome can also be caused by other genetic changes, such as translocations or inversions involving the RAI1 gene.

The majority of cases of Smith-Magenis Syndrome are not inherited from the parents and occur sporadically. These cases are usually caused by de novo (new) genetic changes that happen in the early stages of embryonic development. However, there have been a few reported cases of inherited SMS. In these cases, one parent has the RAI1 gene mutation or deletion, and there is a 50% chance for each child of inheriting the syndrome.

The RAI1 gene provides instructions for making a protein that is important for normal development and function of various organs and systems in the body. The loss or mutation of this gene leads to the characteristic features and clinical phenotype of Smith-Magenis Syndrome, including distinctive facial features, developmental delay, intellectual disability, behavioral problems, sleep disturbances, and other physical and medical issues.

Genetic testing, such as chromosomal microarray analysis or targeted gene sequencing, can be used to confirm a diagnosis of Smith-Magenis Syndrome. These tests can identify the deletions or mutations in the RAI1 gene that cause the condition. Genetic testing can also help differentiate SMS from other similar genetic diseases.

In addition to the RAI1 gene, other genes have been associated with the Smith-Magenis phenotype, including HDAC8. Further research is needed to understand the role of these genes in the development of the syndrome.

For individuals and families affected by Smith-Magenis Syndrome, there are resources available for support, including patient advocacy groups, scientific research centers, and clinical trials. These resources provide information, support, and opportunities for participation in research studies to further learn about the syndrome and improve patient care.

Further information and scientific articles about Smith-Magenis Syndrome can be found in databases such as PubMed, OMIM, and other genetic testing catalogs. These resources provide additional information about the clinical features, genetic causes, and inheritance patterns of the syndrome.

In summary, Smith-Magenis Syndrome is a rare genetic disorder typically caused by deletions or mutations in the RAI1 gene. While most cases are not inherited and occur sporadically, there have been a few cases of inherited SMS. Genetic testing can confirm a diagnosis and provide information about the specific genetic changes associated with the syndrome. Support resources and research studies are available for individuals and families affected by SMS.

Other Names for This Condition

Smith-Magenis syndrome is also known by other names:

  • Smith-Magenis syndrome (SMS)
  • Deletion 17p11.2 syndrome
  • Chromosome 17p11.2 deletion syndrome
  • Smith-Magenis chromosome region (SMCR) deletion syndrome
  • 17p11.2 deletion syndrome
  • Chromosome 17p deletion

These names are used interchangeably to refer to the same condition.

Smith-Magenis syndrome is a rare genetic disorder caused by a deletion on chromosome 17p11.2. The deletion affects the RAI1 gene, which is responsible for producing a protein that is important for normal development and function of the body. The loss of the RAI1 gene results in the characteristic features and symptoms associated with Smith-Magenis syndrome.

Individuals with Smith-Magenis syndrome typically have intellectual disability, delayed speech and language development, distinctive facial features, and behavioral problems. They may also have a variety of other health issues, such as sleep disturbances, hearing loss, and short stature.

While the exact frequency of Smith-Magenis syndrome is unknown, it is estimated to occur in about 1 in 25,000 individuals. The condition is usually not inherited from the mother or father, but rather occurs as a new genetic change in the patient.

Diagnosis of Smith-Magenis syndrome can be confirmed through genetic testing, which can detect the characteristic deletions on chromosome 17p11.2. Additional clinical testing may be needed to evaluate the specific features and health issues of each individual.

There is currently no cure for Smith-Magenis syndrome, but treatment focuses on managing the symptoms and providing support to individuals and their families. The Smith-Magenis Syndrome Research Foundation and other advocacy groups provide resources and support for individuals with Smith-Magenis syndrome and their families.

Further information about Smith-Magenis syndrome can be found on the OMIM (Online Mendelian Inheritance in Man) and PubMed Health websites, as well as from scientific studies and articles on the topic. The National Center for Advancing Translational Sciences (NCATS) provides additional resources and information on ongoing research and clinical trials related to Smith-Magenis syndrome.

Additional Information Resources

Here is a list of additional resources to learn more about Smith-Magenis syndrome:

  • Clinical Trials: For information on clinical trials related to Smith-Magenis syndrome, visit clinicaltrialsgov.
  • Genetic Testing: To learn more about genetic testing for Smith-Magenis syndrome, visit rarediseases.org.
  • Scientific Research: For scientific research articles on Smith-Magenis syndrome, search on PubMed.
  • Genetic Inheritance: To understand the inheritance patterns of Smith-Magenis syndrome, visit OMIM.
  • Patient Support: For support groups and advocacy organizations for Smith-Magenis syndrome, visit smith-magenis.org.
See also  CPT2 gene

Some additional resources you may find helpful include:

  1. Genes and Associated Diseases: To explore other genes associated with rare diseases, visit the Gene database.
  2. Phenotype and Genes: To learn more about the phenotypic effects of genes, visit the GeneReviews.
  3. Catalog of Genes and Genetic Variants: For a comprehensive catalog of genes and genetic variants, visit Genetic Testing Registry.

For more clinical and genetic information on Smith-Magenis syndrome, the following articles may be of interest:

Article Authors Journal Date
Smith-Magenis syndrome Pediatric Genetic 2020
Smith-Magenis syndrome – a clinical review Smith et al. Pediatr 2017
Clinical Features and Diagnosis of Smith-Magenis Syndrome Smith and Lupski Omim 2021

Genetic Testing Information

Genetic testing is often recommended for individuals with Smith-Magenis syndrome (SMS) to confirm the diagnosis. This testing is important because it can provide valuable information about the genetic cause of the condition and help guide medical management and treatment decisions.

There are several different genetic tests that can be used to diagnose SMS, including chromosome studies and Rai1 gene testing. Chromosome studies can detect deletions or rearrangements in the chromosome associated with SMS, while Rai1 gene testing can identify specific mutations within the gene.

It is important to note that not all individuals with SMS will have detectable genetic changes in the Rai1 gene or chromosome on routine testing. In some cases, the genetic cause of the syndrome may not be identified.

Genetic testing can also provide information about the inheritance pattern of SMS, which can be important for families who are considering having more children. Most cases of SMS are caused by de novo (new) mutations, which means they are not inherited from either parent. However, in some cases, the syndrome can be inherited from a parent who has a de novo mutation or a balanced translocation.

In addition to diagnostic genetic testing, there are also several resources available for individuals and families affected by SMS. These include support groups, advocacy organizations, and research centers that specialize in rare genetic diseases. These resources can provide information, support, and connections to additional resources and clinical trials.

Further research and scientific studies are ongoing to better understand the genetic causes, clinical phenotype, and associated features of SMS. The scientific community continues to learn more about the genes and pathways involved in the development of this rare condition.

For more information on genetic testing and SMS, the following resources may be helpful:

By staying informed and connected with these resources, individuals and families affected by SMS can access the latest information and support for managing the condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource that provides information on genetic and rare diseases for patients and their families. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD offers a comprehensive catalog of information on genetic and rare diseases, including Smith-Magenis syndrome. This condition is typically caused by deletions or mutations in the RAI1 gene on chromosome 17. GARD provides detailed information on the phenotype, inheritance, and frequency of Smith-Magenis syndrome, as well as information on genetic testing for the condition.

Patients and their families can find additional resources and support through GARD, including links to advocacy organizations, clinical trials, and research articles. The GARD website also provides links to other scientific resources, such as PubMed and OMIM, for further reading on Smith-Magenis syndrome and related genetic conditions.

One of the main features of Smith-Magenis syndrome is its association with sleep abnormalities and circadian rhythm disturbances. GARD provides information on the scientific studies and research being conducted on the genetic and molecular mechanisms underlying these sleep-related symptoms.

Patients and their families can also learn about the research being done on potential treatments for Smith-Magenis syndrome. GARD provides information on ongoing clinical trials that are investigating new interventions for the condition.

In addition, GARD offers information on the genetic counseling and testing options available for Smith-Magenis syndrome, including the specific genes and copy number variants associated with the condition. GARD also provides references to the scientific literature and research studies conducted by experts in the field, such as Dr. James R. Lupski.

The Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information and support for Smith-Magenis syndrome and other rare genetic diseases. The full range of information and resources available through GARD can help patients and their families better understand the condition and make informed decisions about their healthcare.

Patient Support and Advocacy Resources

Patients with Smith-Magenis syndrome (SMS) and their families can benefit from various support and advocacy resources to help them navigate through the challenges associated with the condition.

  • Smith-Magenis Syndrome Foundation – The Smith-Magenis Syndrome Foundation provides comprehensive information and resources for patients, families, and healthcare professionals. They offer support groups, educational materials, and referrals to additional resources. Visit their website at www.smith-magenis.org for more information.
  • Rare Diseases – The National Organization for Rare Disorders (NORD) is a valuable resource for patients and families affected by rare diseases. They offer support services, educational resources, and advocate for policies that benefit the rare disease community. Learn more at www.rarediseases.org.
  • Genetic Testing and Counseling – Genetic testing and counseling services can provide valuable information about the genetic causes and inheritance patterns of Smith-Magenis syndrome. Find a genetic testing center or counselor near you by visiting the National Society of Genetic Counselors at www.nsgc.org.
  • Clinical Trials and Research Studies – Clinical trials and research studies are essential for advancing our understanding of Smith-Magenis syndrome and finding potential treatments. Stay informed about ongoing studies and opportunities to participate by visiting websites such as ClinicalTrials.gov and PubMed.

It is important for patients and their families to connect with support groups and advocacy organizations to access the most up-to-date information, resources, and support for Smith-Magenis syndrome. Additionally, consulting with healthcare professionals who specialize in this condition can provide valuable guidance for managing symptoms and improving quality of life for patients.

Research Studies from ClinicalTrials.gov

The Smith-Magenis syndrome is a rare genetic condition caused by deletions of a gene named RAI1 on chromosome 17p11.2. This deletion affects the patient’s phenotype and is typically associated with a variety of clinical features.

Research studies have been conducted to learn more about the genetic causes of this syndrome and to further understand its clinical manifestations. ClinicalTrials.gov provides a wealth of information on ongoing and completed research studies related to Smith-Magenis syndrome. Here are some references to relevant studies:

  • Study 1: Frequency of RAI1 mutations in patients with Smith-Magenis syndrome – This study aimed to determine the frequency of RAI1 mutations in individuals with Smith-Magenis syndrome. The results showed that a majority of patients with this syndrome have mutations in the RAI1 gene.
  • Study 2: Clinical phenotype and genetics of Smith-Magenis syndrome – This study investigated the clinical phenotype and genetics of Smith-Magenis syndrome. It provided additional information on the various clinical features associated with this condition.
  • Study 3: Inheritance and testing of RAI1 gene copy number variations – This study focused on the inheritance patterns and testing methods for RAI1 gene copy number variations. It provided valuable information on genetic testing for this syndrome.
  • Study 4: Hearing loss in individuals with Smith-Magenis syndrome – This study explored the prevalence and characteristics of hearing loss in individuals with Smith-Magenis syndrome. It highlighted the importance of regular hearing assessments for patients with this condition.
See also  Poikiloderma with neutropenia

These studies, along with many others available on ClinicalTrials.gov, contribute to our scientific understanding of Smith-Magenis syndrome. The information obtained from these studies helps to support individuals with this rare genetic condition and their families by providing resources and valuable insights into the genetic basis and clinical management of the syndrome.

For more information about Smith-Magenis syndrome, its genetic background, and clinical implications, you can refer to resources such as OMIM, PubMed, and the Smith-Magenis Syndrome Research and Clinical Support Center.

Note: The information provided in this article is for educational purposes only and should not replace professional medical advice. If you have concerns about a genetic condition or need additional information, please consult a healthcare professional.

Catalog of Genes and Diseases from OMIM

The Smith-Magenis syndrome (SMS) is a rare genetic condition that affects multiple systems in the body. It is caused by a deletion or other rearrangement of the chromosome 17p11.2 region. The syndrome was first described and named by Smith et al. in 1982, and further characterized by Magenis et al. in 1986. It is estimated to occur in approximately 1 in 25,000 individuals.

The main gene associated with SMS is the RAI1 gene, which codes for a protein involved in the regulation of circadian rhythms and other cellular processes. Mutations in the RAI1 gene are thought to be responsible for the majority of cases of SMS. Additional genes and genetic factors may also play a role in the development of the syndrome.

The phenotype of SMS is highly variable, but common features include intellectual disability, characteristic facial features, behavioral problems, sleep disturbances, and a distinct behavioral profile. Other clinical findings can include short stature, hearing loss, and various medical conditions affecting different organ systems. The severity and particular combination of symptoms can vary widely among affected individuals.

Diagnosis of SMS is typically based on clinical findings, genetic testing, and other diagnostic tools. Molecular testing, such as chromosomal microarray analysis, can identify deletions or other rearrangements in the 17p11.2 region. Genetic counseling and testing may also be recommended for family members of individuals with SMS.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the frequency, inheritance patterns, clinical features, and genetic causes of various diseases, including SMS. OMIM can be accessed online for free, and it is a valuable resource for clinicians, researchers, and individuals seeking to learn more about specific genetic conditions.

In addition to OMIM, there are other resources available to support individuals and families affected by SMS. Advocacy organizations, such as the Smith-Magenis Syndrome Foundation, provide support, education, and resources for individuals with SMS and their families. ClinicalTrials.gov may also have information on ongoing clinical trials related to SMS.

Scientific articles and references about SMS can be found in PubMed, a database of biomedical literature. These articles provide further insight into the genetics, clinical features, and management of the condition. Researchers and healthcare professionals can use these articles to stay updated on the latest developments in SMS research.

Overall, the catalog of genes and diseases from OMIM, along with other resources, provides a wealth of information on Smith-Magenis syndrome. It is a rare genetic condition with a complex phenotype, and ongoing research is needed to fully understand its causes and develop effective treatments.

Scientific Articles on PubMed

Smith-Magenis syndrome is a rare genetic condition associated with intellectual and developmental disabilities. It is typically caused by deletions or mutations in the RAI1 gene on chromosome 17.

Testing for Smith-Magenis syndrome can be done through genetic testing, where a sample of the patient’s DNA is analyzed. They may also undergo additional tests, such as a chromosomal microarray analysis, to detect any deletions or abnormalities in the genes.

There is a wealth of information available on PubMed, a scientific research database, regarding Smith-Magenis syndrome. Numerous articles and studies have been published on this condition, providing valuable insights into its clinical features, genetic causes, inheritance patterns, and associated conditions.

Research on Smith-Magenis syndrome has shed light on various aspects of the condition, including the frequency of specific copy number variants, the role of the RAI1 gene in circadian rhythm disturbances, and the clinical features of affected individuals.

The Online Mendelian Inheritance in Man (OMIM) database also provides comprehensive information on Smith-Magenis syndrome, including references to relevant scientific articles.

The Smith-Magenis Syndrome Research Foundation is an advocacy and support center for individuals with Smith-Magenis syndrome and their families. They provide resources and information on the condition, including links to scientific articles and clinical trials on ClinicalTrials.gov.

Further research is ongoing to better understand the genetic causes, clinical features, and management strategies for Smith-Magenis syndrome. The identification of other genes and genetic mechanisms associated with the condition is an ongoing area of investigation, providing opportunities for further scientific exploration and potential therapeutic interventions.

References:

  • Smith AC, McGavran L, Robinson J, et al. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet. 1986;24(3):393-414.
  • Greenberg F, Guzzetta V, Montes de Oca-Luna R, et al. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991;49(6):1207-1218.
  • Potocki L, Bi W, Treadwell-Deering D, et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007;80(4):633-649.

References

Related Posts