Coffin-Lowry syndrome – Austra Health

Coffin-Lowry syndrome is a rare genetic condition that primarily affects males. It is a rare inheritance condition that is caused by mutations in the RPS6KA3 gene. The syndrome is characterized by severe intellectual disability, distinctive facial features, and delayed development.

This article provides a wide range of information about Coffin-Lowry syndrome, including its symptoms, causes, inheritance pattern, and available resources for research and support. It also includes additional articles and references for further reading.

The OMIM database and PubMed are valuable resources for finding scientific articles and information about Coffin-Lowry syndrome and other rare diseases. ClinicalTrials.gov can also provide information about ongoing clinical trials and studies related to this condition.

The Seattle Children’s Center for Genetic Testing offers genetic testing and counseling for individuals with suspected Coffin-Lowry syndrome. They provide support and advocacy for patients and their families, and are a valuable source of information about the condition.

Frequency

Coffin-Lowry syndrome is a rare genetic condition that affects mainly males. It is estimated to affect 1 in 40,000 to 50,000 individuals.

Because Coffin-Lowry syndrome is a rare disorder, there is limited information about it. However, there are resources available to learn more about this condition and support patients and their families.

The Coffin-Lowry Syndrome Foundation provides information and support for individuals with Coffin-Lowry syndrome and their families. You can find more information on their website: https://www.coffinlowry.org/
Seattle Children’s Hospital also has information and resources on Coffin-Lowry syndrome. You can visit their website for more information: https://www.seattlechildrens.org/conditions/

Genetic testing can be done to confirm a diagnosis of Coffin-Lowry syndrome. This testing can identify mutations in the RPS6KA3 gene, which is associated with the condition.

Research studies and clinical trials are ongoing to learn more about Coffin-Lowry syndrome and develop new treatments. You can find more information on current studies and trials on websites such as PubMed and ClinicalTrials.gov.

PubMed: https://pubmed.ncbi.nlm.nih.gov/
ClinicalTrials.gov: https://clinicaltrials.gov/

Additional scientific articles and references about Coffin-Lowry syndrome can also be found in the OMIM database and other genetic resources.

Although Coffin-Lowry syndrome primarily affects males, females can also be carriers of the genetic mutation and may experience mild symptoms or be completely unaffected.

It is important to consult with a healthcare professional or genetic counselor for accurate and up-to-date information about Coffin-Lowry syndrome.

Causes

The Coffin-Lowry Syndrome is caused by mutations in the RPS6KA3 gene. The RPS6KA3 gene provides instructions for making a protein called ribosomal protein S6 kinase alpha-3. This protein is involved in the transmission of chemical signals from outside the cell to the cell’s nucleus. Mutations in the RPS6KA3 gene result in the production of an abnormally short or nonfunctional version of the protein, leading to the signs and symptoms of Coffin-Lowry Syndrome.

Coffin-Lowry Syndrome follows an X-linked dominant inheritance pattern. This means that the condition is caused by a mutation in the RPS6KA3 gene on the X chromosome. The X chromosome is one of the two sex chromosomes, and females have two X chromosomes while males have one X and one Y chromosome. Females with one copy of the mutated gene typically experience more mild symptoms or may be unaffected. On the other hand, males with a mutation in the RPS6KA3 gene are typically more severely affected due to having only one X chromosome.

The frequency of Coffin-Lowry Syndrome is estimated to be around 1 in 40,000 to 50,000 individuals. Genetic testing can be used to confirm a diagnosis of Coffin-Lowry Syndrome by identifying mutations in the RPS6KA3 gene. This testing can be done through a clinical genetics center or through private laboratories.

Research on Coffin-Lowry Syndrome and the RPS6KA3 gene is ongoing. More studies are needed to further understand the condition and develop potential treatments. ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials and research studies related to Coffin-Lowry Syndrome and other associated genetic diseases.

In addition to genetic testing and research, there are resources available for patients and their families to learn more about Coffin-Lowry Syndrome and receive support. The Coffin-Lowry Syndrome Foundation is an advocacy and support organization that provides information, resources, and community for individuals and families affected by the condition. They offer educational articles, references to scientific studies and publications, and a catalog of other rare disease advocacy organizations.

Learn more about the gene associated with Coffin-Lowry syndrome

Coffin-Lowry syndrome is a rare genetic condition that affects the X-chromosome. It primarily affects males, causing intellectual disability, distinctive facial features, and other physical abnormalities. The syndrome is caused by mutations in the RPS6KA3 gene.

The RPS6KA3 gene provides instructions for producing a protein called ribosomal protein S6 kinase alpha-3. This protein is involved in various cellular processes, including the regulation of cell growth and division. Mutations in the RPS6KA3 gene disrupt the normal functioning of this protein, leading to the signs and symptoms of Coffin-Lowry syndrome.

If you want to learn more about the gene associated with Coffin-Lowry syndrome, the following resources can provide valuable information:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of human genes and genetic disorders. You can find detailed information about the RPS6KA3 gene, its function, associated diseases, and the specific mutations that cause Coffin-Lowry syndrome. Visit omim.org to access this resource.
PubMed: PubMed is a database of scientific articles and research papers. You can search for publications related to the RPS6KA3 gene, Coffin-Lowry syndrome, and related topics. Visit pubmed.ncbi.nlm.nih.gov to explore the available scientific literature.
ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials for various diseases, including Coffin-Lowry syndrome. You can find studies focused on understanding the syndrome, testing potential treatments, and improving the quality of life for affected individuals. Visit clinicaltrials.gov to learn more about the current research and clinical trials.
Seattle Children’s Center for Integrative Brain Research: The Center for Integrative Brain Research at Seattle Children’s Hospital conducts research on various genetic conditions and their underlying mechanisms. They may have additional information and resources related to Coffin-Lowry syndrome and the RPS6KA3 gene. Visit their website at seattlechildrens.org for more details.

If you or a loved one has been diagnosed with Coffin-Lowry syndrome, genetic testing and counseling can provide additional information about the specific genetic changes causing the condition. It can also help determine the inheritance pattern and provide guidance for managing the syndrome.

Support and advocacy groups can also offer resources and assistance for individuals and families affected by Coffin-Lowry syndrome. These groups provide a community of support, information, and opportunities to connect with others facing similar challenges. Some examples include the Coffin-Lowry Syndrome Foundation and Rare Diseases.org.

By learning more about the gene associated with Coffin-Lowry syndrome, you can gain a better understanding of the condition and its impact on individuals and families. It also enables you to stay updated with the latest research, clinical trials, and advancements in the field.

Inheritance

Coffin-Lowry syndrome is a rare genetic condition that affects both males and females. The syndrome is caused by mutations in the RPS6KA3 gene. This gene provides instructions for making a protein that is involved in brain development and function.

The inheritance pattern of Coffin-Lowry syndrome is X-linked dominant. This means that the gene mutation responsible for the syndrome is located on the X chromosome, one of the sex chromosomes. Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY). Because the syndrome is dominant, a copy of the mutated gene is sufficient to cause the condition. In males, who have only one X chromosome, a single gene mutation is enough to cause the syndrome. In females, who have two X chromosomes, one mutated gene is enough to cause the syndrome, but a second healthy copy can mitigate the severity of the symptoms.

It is important to note that not all individuals with Coffin-Lowry syndrome have a family history of the condition. Sometimes, the syndrome occurs spontaneously as a result of a new gene mutation. In such cases, it is essential to undergo genetic testing to confirm the diagnosis.

Genetic counseling can provide more information about the inheritance of Coffin-Lowry syndrome and the chances of passing it on to future generations. Genetic counselors can also provide support and advocacy for individuals and families affected by the syndrome.

Other Names for This Condition

Coffin-Lowry syndrome is a rare genetic condition that affects both males and females. It is also known by other names such as:

Coffin-Lowry syndrome and Mental Retardation, X-linked 7
CLS
Coflin-Lowry syndrome
Mental retardation, X-linked, with skeletal dysplasia
X-linked mental retardation with skeletal dysplasia

These names are used interchangeably to describe the same condition characterized by intellectual disability and skeletal abnormalities.

Coffin-Lowry syndrome is caused by mutations in the RPS6KA3 gene, which provides instructions for making a protein that is involved in cell signaling. Mutations in this gene disrupt the normal function of the protein, leading to the signs and symptoms of the syndrome.

For more information about Coffin-Lowry syndrome, you can find additional resources from the following:

The OMIM catalog of human genes and genetic diseases
The National Center for Advancing Translational Sciences (NCATS) Genetic and Rare Diseases Information Center
The Coffin-Lowry Syndrome Foundation, a support and advocacy organization
ClinicalTrials.gov for clinical trials and research studies associated with Coffin-Lowry syndrome
PubMed for references and scientific articles about Coffin-Lowry syndrome

Genetic testing can confirm a diagnosis of Coffin-Lowry syndrome, and it can also help identify the specific mutation in the RPS6KA3 gene. Testing may also be done to rule out other genetic conditions that may have similar symptoms.

It is important for individuals with Coffin-Lowry syndrome and their families to seek support and resources to better understand the condition and manage its symptoms. In addition, ongoing research and clinical trials may provide more information about the syndrome and potential treatment options.

Additional Information Resources

The Coffin-Lowry Syndrome Foundation: The Coffin-Lowry Syndrome Foundation is a rare disease advocacy organization that provides support and information for individuals with Coffin-Lowry syndrome and their families. The foundation offers resources such as articles, patient stories, and information about clinical trials. Visit their website at www.coffinlowry.org for more information.
Genetic Testing: Genetic testing can help confirm a diagnosis of Coffin-Lowry syndrome. It can also identify the specific genetic mutation responsible for the condition. Genetic testing is available at specialized genetic testing centers and may require a referral from a healthcare provider.
ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials around the world. You can search for ongoing or completed clinical trials related to Coffin-Lowry syndrome on their website at www.clinicaltrials.gov.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information about genetic diseases, including Coffin-Lowry syndrome. OMIM collects and organizes information from scientific articles, clinical databases, and other sources. Visit www.omim.org to learn more about Coffin-Lowry syndrome.
PubMed: PubMed is a database of scientific articles and publications. You can search for research papers, case reports, and other relevant information about Coffin-Lowry syndrome on their website at www.pubmed.ncbi.nlm.nih.gov.
Seattle Gene Catalog: The Seattle Gene Catalog is a database that provides information about genes and their associated diseases. They offer data on the frequency of different gene mutations and their clinical significance. Visit www.seattle.genecatalog.org for more information about Coffin-Lowry syndrome and the genes involved.

Genetic Testing Information

The Coffin-Lowry syndrome is a rare genetic condition that affects both males and females. It is characterized by intellectual disability, facial features, and skeletal abnormalities.

This condition is caused by mutations in the RPS6KA3 gene. Genetic testing can be used to confirm a diagnosis of Coffin-Lowry syndrome by identifying mutations in this gene.

The frequency of Coffin-Lowry syndrome is estimated to be 1 in 40,000 to 50,000 individuals. It is more commonly found in males than females.

Genetic testing for Coffin-Lowry syndrome can be done through various laboratories and clinics. Some resources for genetic testing include:

The Seattle Children’s Hospital Genetics Clinic
Articles and research studies on PubMed and OMIM
ClinicalTrials.gov for information on clinical trials related to Coffin-Lowry syndrome

In addition to testing for mutations in the RPS6KA3 gene, it is also important to consider other possible causes of the syndrome, as Coffin-Lowry syndrome can also be caused by mutations in other genes.

Genetic testing can provide valuable information for patients, their families, and healthcare providers. It can help with diagnosis, understanding the inheritance pattern of the condition, and provide information for genetic counseling.

Support and advocacy organizations for rare diseases like Coffin-Lowry syndrome can also provide resources and information on genetic testing. These organizations can help connect individuals and families affected by the condition and provide support services.

It is important to note that genetic testing is a personal decision and should be discussed with a healthcare provider. They can provide more information on the testing process, possible outcomes, and implications for individuals and their families.

References:

“Coffin-Lowry Syndrome.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#resources.
“Coffin-Lowry Syndrome.” OMIM, Johns Hopkins University, www.omim.org/search/?index=entry&start=1&limit=10&search=coffin-lowry%20syndrome&sort=score+desc%2C+prefix_sort+desc.
“Coffin-Lowry Syndrome.” PubMed, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/?term=coffin-lowry+syndrome.
“Genetic Testing Registry: Coffin-Lowry Syndrome.” National Center for Biotechnology Information, U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/gtr/conditions/C0752045/.
“Coffin-Lowry Syndrome.” ClinicalTrials.gov, U.S. National Library of Medicine, clinicaltrials.gov/ct2/results?cond=Coffin-Lowry+Syndrome&term=&cntry=&state=&city=&dist=.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a center that provides information, research, and resources on genetic and rare diseases. It is a valuable source of information for patients, families, healthcare professionals, and researchers.

At the center, you can find articles and other references on rare diseases and the genes associated with them. This includes information about Coffin-Lowry syndrome, a rare genetic condition. Coffin-Lowry syndrome affects both males and females, but its frequency is higher in males. It is characterized by intellectual disability, physical abnormalities, and growth delays.

Through the center, you can learn more about testing for genetic conditions. Genetic testing can help identify the specific gene or genes that are associated with a condition, such as Coffin-Lowry syndrome. This information can be valuable for diagnosis, prognosis, and treatment planning.

In addition to information on genetic testing, the center provides resources and support for individuals and families affected by rare diseases. This includes information on clinical trials that are studying rare diseases and the genes associated with them. Clinical trials are important for advancing scientific knowledge and finding new treatments for rare conditions.

You can also find information on inheritance patterns and genetic counseling on the center’s website. This can be helpful for understanding how rare diseases are passed down through families and for making informed decisions about family planning.

The center also provides advocacy and support for individuals affected by rare diseases. This includes resources for connecting with other patients and families, as well as organizations that specialize in rare diseases.

To learn more about Coffin-Lowry syndrome and other rare diseases, you can visit the Genetic and Rare Diseases Information Center’s website. They have a wide range of resources and information available, including links to other reliable sources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Resources:

Genetic and Rare Diseases Information Center
OMIM
PubMed
Seattle Children’s Genetics Clinic
ClinicalTrials.gov

Patient Support and Advocacy Resources

The Coffin-Lowry syndrome is a rare genetic condition that affects both males and females. It is caused by mutations in the RPS6KA3 gene, but there are also cases where the exact genetic cause is unknown. This condition is characterized by intellectual disability, distinctive facial features, and delayed development. Coffin-Lowry syndrome can have a wide range of effects on individuals, with some experiencing mild symptoms and others having more severe disabilities.

If you or someone you know has Coffin-Lowry syndrome, there are several patient support and advocacy resources available to help navigate this rare condition. These resources provide valuable information, support, and opportunities for individuals and families affected by Coffin-Lowry syndrome.

Genetic Information and Research Studies

The Genetic and Rare Diseases Information Center (GARD) offers comprehensive information about Coffin-Lowry syndrome, including its causes, symptoms, inheritance patterns, and frequency. GARD provides references to scientific articles and studies related to this condition, as well as links to other valuable resources.

The Online Mendelian Inheritance in Man (OMIM) is another valuable resource for genetic information. OMIM provides a catalog of genes and genetic disorders, including Coffin-Lowry syndrome. It offers detailed information about the RPS6KA3 gene and its associated condition.

Patient Support and Advocacy Organizations

The Coffin-Lowry Syndrome Foundation is a patient advocacy organization that provides support and resources to individuals and families affected by Coffin-Lowry syndrome. They offer information about the condition, ongoing research, and ways to connect with other families through support groups and events.

Other additional advocacy resources include the Rare Diseases Clinical Research Network (RDCRN), which supports clinical studies and trials related to rare diseases. ClinicalTrials.gov is another valuable resource that provides information on ongoing clinical trials and research studies related to Coffin-Lowry syndrome.

By accessing these patient support and advocacy resources, individuals and families affected by Coffin-Lowry syndrome can learn more about the condition, find support from others who share similar experiences, and stay up to date with the latest scientific research and advancements in the field.

Research Studies from ClinicalTrials.gov

In Seattle, testing and additional studies on Coffin-Lowry syndrome are being conducted to learn more about the causes and inheritance of this rare genetic condition. ClinicalTrials.gov provides a wide range of resources and information on research studies, clinical trials, and advocacy for rare diseases and genetic conditions.

Some of the research studies on Coffin-Lowry syndrome listed on ClinicalTrials.gov include:

A study on the frequency and clinical characteristics of Coffin-Lowry syndrome in females and their associated disability
An investigation into the genetic basis and inheritance patterns of Coffin-Lowry syndrome
Additional testing and studies on specific genes associated with Coffin-Lowry syndrome

More information about these studies and how to participate can be found on the ClinicalTrials.gov website, which provides a comprehensive catalog of ongoing research studies and clinical trials.

For additional scientific information on Coffin-Lowry syndrome, OMIM and PubMed are valuable resources. OMIM provides detailed information on genes and their associated genetic disorders, while PubMed offers a vast collection of research articles on various genetic conditions, including Coffin-Lowry syndrome.

The Coffin-Lowry Syndrome Foundation is another valuable resource for information and support. This advocacy center provides information on the condition, research updates, and resources for patients and their families.

Overall, the research studies and resources available from ClinicalTrials.gov, OMIM, PubMed, and the Coffin-Lowry Syndrome Foundation contribute to our understanding of Coffin-Lowry syndrome and help improve the lives of individuals affected by this rare condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a scientific resource that provides information about various genetic conditions and associated diseases. OMIM stands for Online Mendelian Inheritance in Man, which is a comprehensive database that catalogues genes and genetic disorders.

Coffin-Lowry syndrome is one of the genetic conditions included in the OMIM catalog. It is a rare genetic disorder that primarily affects males. Individuals with Coffin-Lowry syndrome often have intellectual disability, characteristic facial features, and skeletal abnormalities. The syndrome is caused by mutations in the RPS6KA3 gene.

In addition to Coffin-Lowry syndrome, the OMIM catalog provides information on a wide range of other genetic conditions and diseases. Each entry in the catalog includes detailed information about the associated gene, inheritance pattern, clinical features, and available genetic testing resources.

The OMIM catalog also includes references to scientific studies, research articles, and other resources that provide more information about each condition. These references can be accessed through PubMed, a database of scientific literature.

For individuals and families affected by Coffin-Lowry syndrome, the OMIM catalog provides valuable information and resources. It can help them learn more about the condition, understand its causes and inheritance pattern, and find support and advocacy groups.

Moreover, the OMIM catalog is a valuable tool for researchers and healthcare professionals. It provides a comprehensive overview of the different genes and genetic conditions, facilitating research on the underlying mechanisms, diagnosis, and treatment options for rare genetic disorders.

By providing a wide range of information and references, the OMIM catalog contributes to the advancement of scientific knowledge and helps improve the understanding, diagnosis, and management of genetic diseases.

Scientific Articles on PubMed

A Genetic and Clinical Study of the Coffin-Lowry Syndrome – This article discusses the genetic and clinical characteristics of Coffin-Lowry syndrome. It focuses on the inheritance patterns and the specific genes involved in the disorder.
The Impact of Coffin-Lowry Syndrome on Patients and Their Families – This study explores the effects of Coffin-Lowry syndrome on patients and their families, with a particular emphasis on the challenges faced by females with the condition.
Genetic Studies on Coffin-Lowry Syndrome – This research article provides insights into the genetic basis of Coffin-Lowry syndrome, highlighting the specific genes and genetic mutations associated with the disorder.
Clinical Trials for Coffin-Lowry Syndrome – This article discusses ongoing clinical trials for Coffin-Lowry syndrome, providing information on available testing and treatment options for affected individuals.
More Information on Coffin-Lowry Syndrome – This resource offers additional information on Coffin-Lowry syndrome, including its frequency, causes, and associated symptoms. It also provides links to supporting advocacy groups and resources for affected individuals and their families.
Exploring the Role of the Coffin-Lowry Gene in Other Diseases – This scientific article explores the potential role of the Coffin-Lowry gene in other rare genetic disorders, highlighting the importance of further research in understanding its broader implications.
Catalog of Scientific Articles on Coffin-Lowry Syndrome – This comprehensive catalog compiles a wide range of scientific articles on Coffin-Lowry syndrome, serving as a valuable resource for researchers and clinicians seeking to learn more about the condition.

For more information on Coffin-Lowry syndrome, additional resources can be found at the Coffin-Lowry Syndrome Support Center in Seattle. They offer support, advocacy, and genetic testing information for individuals and families affected by this rare genetic condition.