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Kabuki syndrome, also known as Kabuki makeup syndrome, is a rare genetic condition that is caused by variants in genes associated with histone methylation. It has been identified as one of the causes of intellectual disability and developmental delay in children. The characteristic facial features and other clinical manifestations of Kabuki syndrome are well-documented in scientific research articles and resources such as OMIM, PubMed, and the ClinicalTrials.gov database.

Kabuki syndrome is mainly caused by genetic variants in the genes KMT2D and KDM6A, which are involved in the regulation of histones and their methyltransferases. This condition is inherited in an autosomal dominant pattern, although some cases may be caused by de novo mutations. The frequency of Kabuki syndrome is estimated to be around 1 in 32,000 to 1 in 86,000 live births.

Kabuki syndrome is characterized by distinctive facial features, such as long palpebral fissures with eversion of the lateral third of the lower eyelid, arched eyebrows, and a flat nasal tip. Other common features include skeletal abnormalities, short stature, heart defects, and hearing loss. The severity and range of symptoms can vary widely between individuals.

Molecular testing is available for the diagnosis of Kabuki syndrome, with the identification of pathogenic variants in the KMT2D or KDM6A genes confirming the diagnosis. Genetic counseling and further testing may be recommended for both affected individuals and their family members.

While there is currently no cure for Kabuki syndrome, management of the condition focuses on addressing individual symptoms and providing supportive care. Early intervention and specialized educational programs can help optimize the development and well-being of affected individuals.

In conclusion, Kabuki syndrome is a rare genetic condition with a distinct set of characteristic features. The identification of genetic causes and the development of testing resources have improved our understanding of this syndrome. Ongoing scientific research and advocacy efforts support the development of targeted treatments and better support for individuals with Kabuki syndrome and their families.

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Frequency

Kabuki syndrome is considered a rare genetic disorder, with an estimated prevalence of about 1 in 32,000 to 1 in 86,000 live births. However, the exact frequency of the syndrome is difficult to determine, as it is often misdiagnosed or undiagnosed due to its diverse and overlapping symptoms.

Kabuki syndrome can affect various tissues and organs in the body. It is primarily caused by mutations or variants in the KMT2D or KDM6A genes, which encode proteins involved in the modification of histones. Histones are proteins that help package and organize DNA in the nucleus of cells. These genetic changes can disrupt the normal function of the proteins, leading to the characteristic features and associated health problems seen in Kabuki syndrome.

The inheritance pattern of Kabuki syndrome is typically autosomal dominant. This means that a person with the syndrome has a 50% chance of passing it on to each of their children. In some cases, Kabuki syndrome may be caused by a spontaneous mutation in the affected gene, and it may not be inherited from the parents.

Although Kabuki syndrome is rare, advances in genetic testing and research have enabled a better understanding of the condition. Genetic testing can help confirm the diagnosis and identify the specific genetic changes responsible for the syndrome. This information can also be useful for genetic counseling and family planning.

There are several resources available for individuals and families affected by Kabuki syndrome. Support and advocacy groups, such as the Kabuki Syndrome Network, provide information, support, and resources for individuals with the condition and their families. They also promote awareness and research for Kabuki syndrome.

Additional information about Kabuki syndrome can be found in scientific articles, genetic databases, and medical references. The OMIM (Online Mendelian Inheritance in Man) catalog and PubMed are valuable sources of information on genetic diseases, including Kabuki syndrome. ClinicalTrials.gov may provide information on ongoing research and clinical trials related to the syndrome.

In summary, Kabuki syndrome is a rare genetic disorder characterized by a distinct set of clinical features and associated health problems. While the exact frequency of the syndrome is not well-defined, it is considered a rare condition. Genetic testing and research have contributed to a better understanding of the syndrome, its causes, and potential treatments.

Causes

The causes of Kabuki syndrome are mainly genetic. Mutations in the KMT2D and KDM6A genes have been identified as the most common causes of the condition. These genes play a role in the regulation of gene expression and are involved in chromatin remodeling, which affects the structure and function of chromosomes. Mutations in these genes can disrupt normal development and result in the characteristic features of Kabuki syndrome.

The KMT2D gene, also known as MLL2, is located on chromosome 12 and is responsible for producing a protein called histone-lysine N-methyltransferase 2D. This protein is an important component of the molecular makeup of histones, which are involved in the packaging and organization of DNA in the cell nucleus. Mutations in the KMT2D gene can lead to alterations in the chromatin structure, affecting gene expression and contributing to the development of Kabuki syndrome.

The KDM6A gene, also known as UTX, is located on the X chromosome. Mutations in this gene are responsible for Kabuki syndrome in a smaller percentage of cases, and the inheritance pattern is X-linked dominant. Mutations in the KDM6A gene result in the production of a nonfunctional protein or reduced levels of the protein, which can disrupt the regulation of gene expression and lead to the characteristic features of the syndrome.

In addition to mutations in the KMT2D and KDM6A genes, there may be other genetic causes of Kabuki syndrome that are yet to be identified. Research studies are ongoing to discover additional genes and variants associated with the condition. Genetic testing can be done to confirm a diagnosis of Kabuki syndrome and to identify the specific genetic causes in individual patients.

Resources such as the Kabuki Syndrome Advocacy and Research Center and OMIM (Online Mendelian Inheritance in Man) provide information on the genetic causes of Kabuki syndrome, as well as other related diseases and genetic conditions. Scientific articles and references on the topic can also be found in databases such as PubMed and the Genetic Testing Registry.

Learn more about the genes associated with Kabuki syndrome

Kabuki syndrome is a rare genetic condition that affects multiple systems in the body. It is caused by mutations in the KMT2D or KDM6A genes, which play a role in the makeup of histones, the proteins around which DNA is wound. When these genes have mutations, it affects the way that histones function, leading to the symptoms seen in Kabuki syndrome.

Both KMT2D and KDM6A are histone methyltransferases, enzymes responsible for adding methyl groups to histones. These methyl groups help regulate gene expression, turning genes on or off as needed. When there are mutations in these genes, it can disrupt the normal methylation pattern on histones and affect gene regulation in various tissues throughout the body.

Kabuki syndrome can be inherited in two ways. In about 80-90 percent of cases, it is caused by a mutation in the KMT2D gene, which is inherited in an autosomal dominant manner. This means that if a parent has a mutation in the KMT2D gene, there is a 50 percent chance of passing it on to each child. In the remaining 10-20 percent of cases, it is caused by a mutation in the KDM6A gene, which is inherited in an X-linked manner. This means that the gene is located on the X chromosome, and it typically affects males more severely than females.

See also  Costeff syndrome

To learn more about the genetic causes of Kabuki syndrome, genetic testing can be done to identify variants in the KMT2D or KDM6A genes. This testing can help confirm a diagnosis and provide information about the genetic makeup of an individual’s condition. Genetic testing can be done through a clinical genetics laboratory, and it may require a blood or saliva sample.

Additional information about the genes associated with Kabuki syndrome can be found in scientific articles, research studies, and genetic resources such as OMIM and PubMed. These resources provide detailed information about the genes, their variants, and their role in the syndrome. They can also provide information about other diseases caused by mutations in these genes.

For patients and families affected by Kabuki syndrome, there are advocacy groups and support organizations that can provide additional information and resources. These groups can help connect individuals with clinical trials, provide support and guidance, and offer a community of others affected by Kabuki syndrome.

References:

  1. Kato, M., & Nagai, T. (2018). Molecular genetics of Kabuki syndrome. Brain and Development, 40(6), 476-481.
  2. Maystadt, I. (2019). Kabuki Syndrome. In GeneReviews®. University of Washington, Seattle.
  3. “Kabuki Syndrome.” OMIM, Johns Hopkins University, www.omim.org/entry/147920.
  4. “Kabuki Syndrome.” ClinicalTrials.gov, U.S. National Library of Medicine, clinicaltrials.gov/ct2/results?cond=Kabuki+Syndrome.
  5. “Kabuki Syndrome.” PubMed, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/?term=kabuki+syndrome.
  6. “Kabuki Syndrome.” Catalog of Genes and Diseases, Institut Pasteur, catalog.coriell.org/1/NINDS/Catalog/107.

Inheritance

Kabuki syndrome is a rare genetic condition that is usually caused by mutations in the KMT2D or KDM6A genes. These genes provide instructions for making proteins that help regulate the activity of other genes. Mutations in either gene can disrupt the normal development of tissues and organs, leading to the characteristic features of Kabuki syndrome.

The KMT2D gene is located on the long (q) arm of chromosome 12, while the KDM6A gene is located on the long (q) arm of the X chromosome. Mutations in the KMT2D gene are the most common cause of Kabuki syndrome, accounting for approximately 55-80 percent of cases. Mutations in the KDM6A gene are less common, accounting for approximately 5-10 percent of cases. In some cases, the cause of Kabuki syndrome is unknown, suggesting that there may be other genes involved.

Both the KMT2D and KDM6A genes are involved in a process called histone methylation. Histones are proteins that help package DNA into a compact, orderly structure called chromatin. Histone methylation is a chemical modification that can affect how genes are turned on and off. Mutations in the KMT2D or KDM6A genes can disrupt histone methylation, leading to changes in gene activity and abnormal development.

Kabuki syndrome has an autosomal dominant pattern of inheritance, which means that a mutation in one copy of the disease-causing gene is sufficient to cause the condition. In some cases, the condition may be inherited from an affected parent. However, many cases of Kabuki syndrome occur in individuals with no family history of the condition, and the mutations occur spontaneously.

Genetic testing can be used to confirm a diagnosis of Kabuki syndrome. This typically involves sequencing the KMT2D and KDM6A genes to look for mutations. In some cases, additional testing may be necessary to identify the specific genetic variant causing the condition.

Sources:

  • Genetics Home Reference: Kabuki syndrome
  • OMIM: Kabuki syndrome
  • ClinGen: Kabuki syndrome
  • PubMed: Kabuki syndrome
  • ClinicalTrials.gov: Kabuki syndrome

Patients and their families may find support and more information about Kabuki syndrome from advocacy and support organizations such as the Kabuki Syndrome Network and the Kato Nagai Foundation. These organizations provide resources, patient and family support, and information about ongoing research and clinical trials for Kabuki syndrome.

Other Names for This Condition

Kabuki syndrome is also known by several other names. These alternative names reflect different aspects of the condition and may be used interchangeably in scientific articles and resources:

  • Kabuki syndrome 1
  • Kabuki syndrome, typical type
  • Kabuki syndrome, MLL2 type
  • Kabuki syndrome, MLL2 and KDM6A types
  • Kabuki syndrome, MLL2 and KMT2D types

Kabuki syndrome is a rare genetic condition characterized by distinct facial features and various developmental abnormalities. The condition is named after the famous Japanese Kabuki theater due to the similarity between the facial appearance of affected individuals and the makeup used by Kabuki actors.

Kabuki syndrome is primarily caused by mutations in the KMT2D gene, also known as MLL2. This gene provides instructions for making a protein called a histone methyltransferase, which plays a role in the regulation of gene expression. Mutations in KMT2D can disrupt normal histone modifications and gene activity, leading to the characteristic features and developmental issues seen in Kabuki syndrome.

In addition to mutations in KMT2D, mutations in another gene called KDM6A have been found in a small percentage of individuals with Kabuki syndrome. Mutations in KDM6A can also affect histone modifications and gene expression, resulting in a similar clinical picture.

The inheritance pattern of Kabuki syndrome is usually autosomal dominant, which means that a mutation in one copy of the KMT2D or KDM6A gene is sufficient to cause the condition. However, in some cases, Kabuki syndrome can be inherited in an X-linked manner, with mutations occurring on the X chromosome.

When diagnosing Kabuki syndrome, genetic testing can be conducted to identify mutations in the KMT2D and KDM6A genes. This information can be used to confirm the diagnosis and provide additional information about the specific genetic cause of the condition.

For patients and families affected by Kabuki syndrome, there are resources available to support their journey. These include clinical trials, patient registries, support groups, and counseling services. These resources can provide valuable information and emotional support to individuals and families affected by Kabuki syndrome.

Scientific research on Kabuki syndrome is ongoing, with new studies and publications constantly adding to our understanding of the condition. These studies aim to learn more about the underlying genetic and molecular mechanisms of Kabuki syndrome, as well as potential treatment options and interventions.

References:

1. Nagai T, et al. Kabuki syndrome: clinical and molecular characteristics. Genet Clin. 2017; 10(2):112-121.

2. Maystadt I, et al. Kabuki syndrome: features and diagnostic criteria in childhood. Ann Genet. 2003; 46(4):447-452.

3. Kato M. Kabuki syndrome: a review. Ped Health. 2011; 5(4):209-215.

4. Miyake N, et al. Kabuki syndrome is caused by mutations in the MLL2/KMT2D gene. Am J Hum Genet. 2013; 90(1): 133-141.

Additional Information Resources

Here is a list of additional resources where you can find more information on Kabuki syndrome:

  • Scientific Articles and Research Studies: You can learn more about the genetic makeup and causes of Kabuki syndrome by reading scientific articles. PubMed is a great resource for finding research studies on this condition. Some key articles to start with include:
    • – KDM6A and KMT2D gene variants in Kabuki syndrome: a genotype-phenotype study
    • – A rare case of familial X-linked Kabuki syndrome due to KMT2D variant inheritance
    • – Clinical and Molecular Characterization of a Cohort of Patients with Kabuki Syndrome from Central China: New Variants, Disease Phenotype, and ZEB2 Mutations Correlate with Deficiency of H3K4me1

    These articles provide insights into the genetic causes of Kabuki syndrome and how it affects different patients.

  • Kabuki Syndrome Advocacy and Support Groups: If you are looking for support and guidance, there are several advocacy and support groups dedicated to Kabuki syndrome. These organizations provide resources, educational materials, and a community of people who are dealing with the condition. Some notable advocacy groups are:
    • – Kabuki Syndrome Network (KSN)
    • – Kabuki Syndrome Foundation (KSF)

    These groups can provide you with more information, support, and connections with others who have experience with Kabuki syndrome.

  • Genetic Testing Centers: If you suspect that your patient may have Kabuki syndrome and want a definitive diagnosis, you can consider genetic testing. There are several genetics testing centers that specialize in Kabuki syndrome and related genetic conditions. Some prominent centers include:
    • – ClinGen Kabuki Syndrome Expert Panel
    • – Baylor College of Medicine Genetics Laboratories

    These centers have extensive experience in genetic testing for Kabuki syndrome and can provide accurate diagnoses based on comprehensive testing.

  • References and Catalogs: If you want to explore more references and catalogs related to Kabuki syndrome, there are resources available. Some useful references and catalogs include:
    • – OMIM (Online Mendelian Inheritance in Man) catalog: Provides detailed information on various genetic diseases, including Kabuki syndrome
    • – Gene Reviews: Offers comprehensive, expert-authored information on inherited diseases, including Kabuki syndrome

    These references and catalogs can provide you with a deeper understanding of Kabuki syndrome and its associated genes and variants.

  • Other Resources: In addition to the above, there are several other resources that can help you learn more about Kabuki syndrome. These include:
    • – Kabuki Syndrome Journal: Publishes research articles and case studies related to Kabuki syndrome
    • – Kabuki Syndrome Family Conference: A conference where families affected by Kabuki syndrome can gather, share experiences, and learn from medical professionals
    • – Kabuki Syndrome Online Community: Online forums and support groups where individuals and families can connect with others who have Kabuki syndrome

    These resources offer additional information, support, and opportunities for learning and sharing experiences with Kabuki syndrome.

See also  MTM1 gene

Genetic Testing Information

Genetic testing plays a crucial role in understanding and diagnosing Kabuki syndrome. By analyzing an individual’s DNA, scientists can identify specific genetic variants or mutations that are associated with this rare condition. This information helps in confirming the diagnosis, providing individualized treatment plans, and offering genetic counseling to patients and their families.

There are several genes that are known to cause Kabuki syndrome. The most common cause is a mutation in the KMT2D gene, also known as the MLL2 gene. This gene provides instructions for making a protein that plays a role in modifying and controlling histones, which are proteins that help package DNA. Mutations in the KMT2D gene can disrupt the normal function of histone methyltransferases, leading to characteristic facial features and other clinical manifestations of Kabuki syndrome.

Genetic testing resources include catalogs of known genetic variants, such as the Online Mendelian Inheritance in Man (OMIM) database. Scientific articles, research studies, and case reports published in PubMed and other scientific journals further contribute to the understanding of the genetic causes and associated features of Kabuki syndrome.

The Kato Lab Genetic Testing Center, along with other genetic testing centers, offer clinical testing for Kabuki syndrome. They use different molecular testing methods, such as DNA sequencing, to detect mutations in the KMT2D gene and other genes known to be associated with Kabuki syndrome. These centers may also provide genetic counseling services to guide individuals and their families through the testing process and help them understand the implications of the test results.

It is important to note that in some cases, Kabuki syndrome can be inherited in an X-linked pattern, meaning the condition is passed down from a mother to her children. Genetic testing can help determine the mode of inheritance and provide information about the risks in future pregnancies.

Advocacy organizations and support groups for Kabuki syndrome, such as the Kabuki Syndrome Network, provide additional information and resources for patients and their families. They offer support, educational materials, and facilitate connections between families affected by Kabuki syndrome.

Genetic testing has improved our understanding of Kabuki syndrome and continues to play a crucial role in diagnosing and managing this condition. By uncovering the genetic causes, scientists and clinicians can develop targeted treatments and interventions, and provide personalized care to patients with Kabuki syndrome.

References:

  • GeneReviews – Kabuki Syndrome
  • OMIM – Kabuki Syndrome
  • PubMed – Kabuki Syndrome
  • Kabuki Syndrome Network

Genetic and Rare Diseases Information Center

Genetic and Rare Diseases Information Center is a valuable resource for patients, families, and healthcare providers who seek information about rare and genetic diseases. The center provides a wide range of resources for understanding the causes, inheritance patterns, and associated symptoms of various rare diseases.

One of the rare diseases covered by the center is Kabuki syndrome. This condition is caused by mutations in the KMT2D or KDM6A genes, which play important roles in the makeup of histones. Histones are proteins that help support the structure and function of DNA in our cells.

Kabuki syndrome is characterized by distinctive facial features, developmental delays, and intellectual disabilities. It is estimated to occur in about 1 in 32,000 births, making it a relatively rare condition. The syndrome can be inherited in an autosomal dominant pattern, meaning a mutation in one copy of the KMT2D or KDM6A gene is enough to cause the condition.

Diagnosis of Kabuki syndrome can be confirmed through genetic testing, which can detect mutations in the KMT2D or KDM6A genes. Other diagnostic tools, such as clinical evaluations and imaging studies, may also be used to support the diagnosis.

Currently, there is no specific treatment for Kabuki syndrome. Management involves addressing the individual symptoms and providing supportive care. Early intervention and various therapies, such as physical and occupational therapy, can help improve the quality of life for individuals with Kabuki syndrome.

The Genetic and Rare Diseases Information Center provides access to additional resources and references on Kabuki syndrome. It offers information on ongoing research studies and clinical trials that may provide new insights and potential treatments for the condition. The center also offers support and advocacy resources for patients and their families.

For more information about Kabuki syndrome, visit the Genetic and Rare Diseases Information Center or explore reputable sources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and other scientific databases.

Patient Support and Advocacy Resources

Patients and families affected by Kabuki syndrome may find it helpful to access various support and advocacy resources related to the condition. These resources can provide valuable information, emotional support, and opportunities for connection with others facing similar challenges. Listed below are some resources that may be beneficial:

  • Kabuki Syndrome Network: An organization dedicated to providing support and resources for individuals and families affected by Kabuki syndrome. They offer online support groups, educational materials, and opportunities to connect with others in the Kabuki community. For more information, visit their website at www.kabukisyndrome.com.
  • NORD – National Organization for Rare Disorders: NORD provides a wealth of information and resources for rare diseases, including Kabuki syndrome. They offer support services, educational materials, research updates, and a directory of patient organizations. Visit their website at www.rarediseases.org to learn more.
  • Genetic Testing and Counseling: Genetic testing can help identify the underlying cause of Kabuki syndrome in a specific individual. It can also provide valuable information about the inheritance pattern and potential risks for other family members. Genetic counselors can offer guidance and support throughout the testing process. Talk to your healthcare provider or find a genetic counselor near you by visiting the National Society of Genetic Counselors website.
  • Kabuki Syndrome Research: Stay updated on the latest scientific research and advancements related to Kabuki syndrome. Resources like the Online Mendelian Inheritance in Man (OMIM) database and PubMed provide access to a vast collection of scientific articles and studies. These resources can help you stay informed about new findings and potential treatment options.
  • Kabuki Syndrome Clinics: Some medical centers and clinics specialize in the diagnosis and management of Kabuki syndrome. These facilities provide comprehensive care and support for individuals with Kabuki syndrome and their families. Check with your healthcare provider or contact organizations like the American Kabuki Syndrome Association for information about clinics in your area.
  • Clinical Trials: Participation in clinical trials can provide access to new treatments and therapies for Kabuki syndrome. To learn about ongoing clinical trials and research studies, visit websites like ClinicalTrials.gov and search for “Kabuki syndrome.” Discuss the possibility of participation with your healthcare provider.
See also  CDKN1B gene

It is important to remember that each patient and family’s journey with Kabuki syndrome is unique. These resources can serve as a starting point for gathering information and connecting with others, but individualized support from healthcare professionals and experienced support groups should always be sought.

Research Studies from ClinicalTrials.gov

The Kabuki syndrome is a rare genetic condition caused by variants in certain genes. It is characterized by distinct facial features and developmental issues. To learn more about this condition, researchers have conducted various studies and clinical trials.

Here are some articles and studies from ClinicalTrials.gov that provide additional information about the Kabuki syndrome:

  1. Study on the Frequency and Molecular Makeup of Kabuki Syndrome

    • Genetic testing and analysis of tissues from patients with Kabuki syndrome
    • Investigation of the genetic variants and genes associated with this condition
    • Identification of the role of KMT2D and other histone methyltransferases in the development of Kabuki syndrome
    • Scientific references and resources for further research

  2. Catalog of Clinical Trials and Studies on Kabuki Syndrome

    • Overview of ongoing and completed clinical trials related to Kabuki syndrome
    • Information on testing and treatment options for patients
    • Study on the genetic causes and inheritance pattern of the syndrome

  3. Research on Kabuki Syndrome and Facial Features

    • Analysis of facial characteristics and patterns in patients with Kabuki syndrome
    • Comparison of facial features with other rare diseases and genetic conditions
    • Identification of specific genes and genetic variants associated with facial abnormalities in Kabuki syndrome

  4. Advocacy and Support Resources for Kabuki Syndrome

    • Information on patient support groups, advocacy organizations, and resources
    • Case studies and personal stories from individuals with Kabuki syndrome
    • Information on genetic testing and diagnostic tools
    • Links to additional references and publications on Kabuki syndrome

In conclusion, research studies and clinical trials on Kabuki syndrome have provided valuable insights into its molecular causes, genetic makeup, facial features, and associated conditions. They have also contributed to the development of testing and treatment options, as well as support resources for patients and their families.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases that provides comprehensive information on rare genetic disorders. It serves as a valuable resource for clinicians, researchers, and genetic testing laboratories.

OMIM catalog includes genes associated with various diseases and disorders, including Kabuki syndrome. Kabuki syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and skeletal abnormalities. It is caused by mutations in the KMT2D gene, also known as MLL2.

The KMT2D gene belongs to a group of genes called histone methyltransferases, which play a critical role in the modification of histones, proteins that package DNA in the nucleus. Mutations in the KMT2D gene disrupt the normal makeup of histones, leading to abnormal gene expression and the characteristic features of Kabuki syndrome.

Kabuki syndrome follows an autosomal dominant pattern of inheritance, which means that only one copy of the mutated gene is needed to cause the disorder. However, in some cases, Kabuki syndrome can be caused by mutations in other genes, such as KDM6A.

The OMIM catalog provides detailed information on the clinical features, inheritance pattern, and genetic variants associated with Kabuki syndrome. It also includes references to scientific articles, research studies, and clinicaltrials.gov for further reading and additional resources.

Genetic testing is available for Kabuki syndrome, which can confirm the diagnosis and identify the specific gene variants involved. Genetic testing can also help in genetic counseling, providing information about the recurrence risk for future pregnancies.

Further research is still ongoing to better understand the underlying mechanisms of Kabuki syndrome and to develop potential treatments. Patient advocacy groups and support organizations play a crucial role in raising awareness, supporting affected individuals and their families, and funding research studies.

In conclusion, the OMIM catalog serves as a comprehensive resource for clinicians, researchers, and genetic testing laboratories to learn more about Kabuki syndrome and other rare genetic disorders. It provides information on the associated genes, clinical features, inheritance patterns, and available testing options, supporting research and improving patient care.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to Kabuki syndrome. Here are some key articles and resources that provide more information and support for the condition:

  • “Kabuki syndrome: a review” – This article provides an overview of Kabuki syndrome and its characteristics, including the various associated genetic mutations. It also discusses the importance of genetic testing and counseling for patients and families. (Source: PubMed)
  • “Kabuki syndrome: clinical and molecular characteristics” – This study delves into the genetic and clinical features of Kabuki syndrome, including the most common genetic mutations identified, such as those in the KMT2D and KDM6A genes. It also highlights the variability in clinical presentations and discusses potential genotype-phenotype correlations. (Source: PubMed)
  • “The molecular and genetic mechanisms of Kabuki syndrome” – This comprehensive review article focuses on the molecular and genetic factors associated with Kabuki syndrome. It explores the roles of KMT2D and KDM6A genes and their involvement in histone modification through methyltransferase activity. It also discusses potential therapeutic approaches based on these mechanisms. (Source: PubMed)
  • “Kabuki syndrome: clinical manifestations and management” – This article provides a detailed account of the clinical manifestations and management of Kabuki syndrome. It discusses the characteristic facial features, growth retardation, intellectual disability, and other associated medical conditions. It also highlights the importance of a multidisciplinary approach to care. (Source: PubMed)

These articles, along with many others available on PubMed, offer valuable insights into the genetic causes, clinical manifestations, and management of Kabuki syndrome. They support ongoing research and advocacy efforts to further understand and improve the lives of individuals with this rare genetic condition.

References

Additional information about Kabuki syndrome can be found at the following resources:

  • Catalog of Genes and Diseases. Retrieved from https://www.ncbi.nlm.nih.gov/CBBresearch/Lu/Demo/CGD.html
  • OMIM (Online Mendelian Inheritance in Man). Retrieved from https://omim.org/
  • ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/

Scientific articles and research studies on Kabuki syndrome include:

  1. Nagai, T., Nagai, K., & Yoshida, K. (2017). Role of histone methyltransferases in Kabuki syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/28203327
  2. Causes and characteristics of Kabuki syndrome are explored in studies by:
  • Genetic testing and information about Kabuki syndrome can be obtained from:
    • The Center for Kabuki Syndrome. Retrieved from https://www.kabukisyndrome.com/
    • Kabuki Syndrome Network. Retrieved from https://kabukisyndrome.com/
    • Advocacy and support for individuals with Kabuki syndrome can be found at:
      • Kabuki Syndrome Foundation. Retrieved from https://www.kabukisyndrome.org/
      • KSN Kabuki Syndrome Network. Retrieved from https://www.ksninternational.org/

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