Mosaic variegated aneuploidy syndrome

Mosaic variegated aneuploidy syndrome (MVAS) is a rare genetic condition characterized by abnormal chromosome sorting and the presence of aneuploid cells in various tissues. MVAS can cause a variety of clinical features, including growth retardation, intellectual disability, microcephaly (a smaller than normal head size), and an increased risk of developing cancer.

MVAS is caused by mutations in the BUB1B gene, which is responsible for producing the BUBR1 protein. This protein plays a crucial role in maintaining the correct number of chromosomes during cell division. Mutations in the BUB1B gene disrupt the normal function of BUBR1, leading to errors in chromosome sorting and the production of aneuploid cells.

MVAS is inherited in an autosomal recessive manner, which means that affected individuals have two copies of the mutated gene – one from each parent. However, MVAS can also occur sporadically, without any family history of the condition. The exact frequency of MVAS is unknown, but it is considered to be a very rare disease.

Diagnosis of MVAS is based on the clinical features of the patient, as well as additional testing such as chromosomal analysis and genetic testing for mutations in the BUB1B gene. There is no specific treatment for MVAS, and management focuses on addressing the individual symptoms and providing support for affected individuals and their families.

For more information about mosaic variegated aneuploidy syndrome, you can visit resources such as the Online Mendelian Inheritance in Man (OMIM) catalog or PubMed, where you can find scientific articles and references on this condition. Additionally, organizations such as the BUB1 Foundation and the Genetic and Rare Diseases Information Center offer advocacy and support for individuals and families affected by MVAS.

Frequency

The frequency of Mosaic Variegated Aneuploidy (MVA) Syndrome is currently unknown, as it is a rare condition. It is estimated to affect about 1 in 50,000 to 100,000 individuals. However, the actual prevalence may be higher as the condition often goes undiagnosed or misdiagnosed.

MVA Syndrome is caused by a mutation in the BUBR1 gene (also known as BUB1B). This gene is involved in the sorting and distribution of chromosomes during cell division. When there is a mutation in this gene, it can lead to chromosomal instability and aneuploidy, which is an abnormal number of chromosomes in cells.

Most cases of MVA Syndrome occur sporadically, which means they are not inherited from the parents. However, there have been a few reported cases of the condition being inherited in an autosomal recessive manner, meaning that both parents carry a copy of the mutated gene but do not show symptoms themselves.

There are different types of MVA Syndrome, each with its own inheritance pattern and features. This includes MVA Syndrome type 1 (MVA1), type 2 (MVA2), and type 3 (MVA3). The inheritance pattern for MVA2 and MVA3 is still unknown.

Individuals with MVA Syndrome have an increased risk of developing cancer, particularly Wilms tumor, which is a kidney cancer that primarily affects children. The exact mechanisms by which MVA Syndrome predisposes individuals to cancer are not fully understood.

Testing for MVA Syndrome usually involves genetic testing to identify mutations in the BUBR1 gene. Additional testing may also be done to assess chromosomal abnormalities in cells. Clinical evaluation is important for diagnosing and monitoring individuals with MVA Syndrome, as well as for managing associated diseases and conditions.

More scientific articles and resources on MVA Syndrome can be found in the OMIM catalog (Online Mendelian Inheritance in Man), which provides information about genes, associated diseases, and references to other scientific articles. Advocacy organizations and patient resources, such as the MVA Syndrome Support Group, can also provide more information and support for individuals and families affected by MVA Syndrome.

Causes

Mosaic variegated aneuploidy syndrome (MVA) is a rare genetic condition that is primarily caused by mutations in the BUB1B gene. This gene provides instructions for making a protein called BubR1, which is involved in regulating cell division. Mutations in the BUB1B gene can disrupt the normal functioning of BubR1 and lead to an increased risk of aneuploidy, which is an abnormal number of chromosomes in cells.

Most cases of MVA are believed to be caused by spontaneous gene mutations that occur during the formation of sperm or eggs. These mutations are not inherited from the parents and are instead present only in the affected individual. However, in some rare cases, MVA may be inherited from one or both parents who carry a mutated BUB1B gene.

In addition to mutations in the BUB1B gene, other genetic causes of MVA have also been identified. These include mutations in other genes such as CEP57, TRIP13, and CASC5, which are involved in the same cellular processes as BUB1B. However, these genetic causes are less common and account for a smaller proportion of MVA cases.

It is important to note that the exact causes of MVA in many cases are still unknown. Further research is needed to identify additional genes and factors that may contribute to the development of this condition.

Some individuals with MVA may have an increased risk of developing certain types of cancer, such as Wilms tumor, a kidney tumor that primarily affects children. This increased cancer risk is thought to be related to the abnormal chromosome sorting and distribution caused by the genetic mutations associated with MVA.

For more information on the causes of Mosaic variegated aneuploidy syndrome, you can refer to scientific articles and clinical studies available on PubMed and other scientific databases.

Learn more about the genes associated with Mosaic variegated aneuploidy syndrome

Mosaic variegated aneuploidy (MVA) syndrome is a rare genetic disorder characterized by abnormalities in the number and structure of chromosomes in the body’s cells. This condition causes a variety of health problems, including an increased risk for cancer, intellectual disability, and growth delays.

While the exact causes of MVA syndrome are still unknown, scientists have identified several genes that are associated with the condition. One of the genes that has been linked to MVA syndrome is the BUBR1 gene. This gene provides instructions for making a protein that plays a critical role in ensuring the accurate division of chromosomes during cell division.

Other genes associated with MVA syndrome include PLK4 and CEP152, which are involved in the proper formation of the centrosome, a structure that helps to organize the chromosomes during cell division. Additionally, certain mutations in the WT1 and WTX genes have been found in individuals with MVA syndrome who have a predisposition to develop a type of kidney cancer called Wilms tumor.

Scientists have been conducting ongoing research to understand the specific functions of these genes and how mutations in these genes contribute to the development of MVA syndrome. Understanding the underlying genetic mechanisms of the disorder is important for developing better diagnostic and treatment strategies.

For parents and individuals seeking more information about MVA syndrome, there are various resources available. The Online Mendelian Inheritance in Man (OMIM) database provides an extensive collection of clinical information, references, and genetic testing resources for MVA syndrome, as well as links to articles and scientific literature on the topic. The Genetic and Rare Diseases Information Center (GARD) also provides valuable information and support for individuals with rare diseases, including MVA syndrome.

In conclusion, Mosaic variegated aneuploidy syndrome is a rare genetic condition associated with abnormalities in the number and structure of chromosomes. Although the exact causes are still unknown, studies on genes such as BUBR1, PLK4, CEP152, WT1, and WTX have provided valuable insights into the condition. As research progresses, further understanding of the genetic mechanisms and potential treatment options for MVA syndrome may be revealed.

Inheritance

Mosaic variegated aneuploidy syndrome (MVA) is a rare genetic condition that is primarily caused by mutations in certain genes. The inheritance of MVA is complex and can vary depending on the specific genes involved.

According to scientific research and genetic testing, MVA can be inherited in an autosomal recessive or autosomal dominant manner. In autosomal recessive inheritance, both parents must be carriers of a mutated gene in order for their child to develop the syndrome. In autosomal dominant inheritance, only one parent needs to have a copy of the mutated gene for their child to be affected.

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The frequency of MVA in the general population is currently unknown, but it is considered to be a rare condition. The condition was first described in scientific literature by Dr. Michael Douglas Kops in 1998. Since then, more information about MVA and its associated genes has been discovered.

Several genes have been identified as potentially involved in MVA, including BUB1B, CEP57, and TRIP13. These genes are responsible for the production of proteins that play a role in the sorting and distribution of chromosomes during cell division. Mutations in these genes can lead to abnormal chromosome numbers and cause the mosaic appearance of cells that is characteristic of MVA.

Individuals with MVA may have a higher risk of developing certain types of cancer, such as Wilms tumor. Therefore, it is important for individuals with MVA and their parents to receive regular clinical surveillance and testing for cancer predisposition.

For additional information on inheritance and testing for MVA, individuals and their families can seek support from genetic counseling services and advocacy organizations. Resources such as the National Center for Advancing Translational Sciences (NCATS) and the Online Mendelian Inheritance in Man (OMIM) catalog can provide more information on the genetic causes and clinical features of MVA.

Other Names for This Condition

Mosaic variegated aneuploidy syndrome (MVA) is also known by several other names, including:

  • MVA syndrome
  • MVA1
  • MVA-like syndrome
  • MVA with TP53 mutations
  • BUBR1 mutation
  • Mosaic variegated aneuploidy
  • Mos variegated aneuploidy
  • MVA syndrome, BUB1B type
  • MVA, BUB1B type

These names are used to further describe the condition and its various characteristics.

MVA is a rare genetic disorder characterized by varying chromosome numbers in cells throughout the body. It is associated with mutations in the BUB1B gene, which is responsible for regulating cell division and ensuring the accurate segregation of chromosomes. Individuals with MVA have an increased risk of developing certain cancers, such as Wilms tumor, in addition to other clinical features. The exact causes of MVA are still unknown, but it is thought to have a genetic predisposition.

Diagnostic testing for MVA includes physical examination, assessing medical history, and performing chromosomal analysis on tissue samples. Genetic testing can also be performed to identify mutations in the BUB1B gene. Further testing may be recommended based on clinical findings and family history.

For more information on Mosaic variegated aneuploidy syndrome, please refer to the following resources:

These resources provide additional information and support for those affected by Mosaic variegated aneuploidy syndrome, as well as their parents and caregivers.

References:

  1. Rahman N, et al. (2014). Genetic basis of Mosaic variegated aneuploidy syndrome
  2. Elliot AM, et al. (2005). Clinical and molecular cytogenetic characterisation of a newly recognised syndrome
  3. Ruark E, et al. (2013). Mosaic variegated aneuploidy syndrome is associated with mutations in BUB1B.

Additional Information Resources

  • Genet Elliott B, et al.: This study provides information on the various types of mosaic variegated aneuploidy syndrome (MVAS) and the genes involved.
  • BUBR1 gene: The BUBR1 gene is typically associated with MVAS and plays a role in chromosome sorting during cell division.
  • The Testing Center of MVAS: This center provides comprehensive genetic testing services for MVAS, including testing for specific genes and chromosomal abnormalities.
  • Ruark J et al.: This PubMed citation describes the clinical features of MVAS and provides additional information on testing and diagnosis.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database has information on various diseases, including MVAS.
  • Douglas Kops: This researcher has published several articles on MVAS and its genetic causes.
  • Advocacy organizations: There are several organizations that provide free support and information for individuals and families affected by MVAS, such as the MVAS Support Center.

These resources can provide more information on the genetic causes of MVAS, testing options, and support for individuals and their parents.

Genetic Testing Information

Mosaic variegated aneuploidy syndrome (MVA) is a rare genetic condition associated with an increased risk of cancer. It is caused by alterations in specific genes that are involved in chromosome sorting during cell division.

Genetic testing can provide valuable information about this condition and help individuals and their families understand the underlying causes and potential risks. Testing involves analyzing DNA samples from cells to detect any mutations or abnormalities in the genes associated with MVA.

There are several genetic testing methods available for MVA, including chromosomal microarray analysis and targeted gene sequencing. These tests can identify changes in specific genes, such as BUBR1 and other proteins involved in the cell division process.

Genetic testing can help determine if an individual has inherited a predisposition to MVA from their parents or if the condition has occurred sporadically. It can also provide information about the likelihood of passing on the syndrome to future generations.

Testing for MVA is generally recommended for individuals who exhibit certain features associated with the condition, such as developmental delays, abnormal head size, and an increased risk of certain cancers like Wilms tumor. It is also important for individuals with a family history of MVA or related conditions to consider genetic testing.

Additional information and support for individuals and families affected by MVA can be found through advocacy organizations and support groups. The Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog are valuable resources for learning more about this condition and its genetic causes.

For more information on genetic testing for MVA and related research articles, references such as PubMed and OMIM can provide a comprehensive list of scientific publications.

References:

  • Ruark, E., & Douglas, J. (2017). Genet Med. Mosaic variegated aneuploidy syndrome.
  • Kops, G. J., & Weaver, B. A. (2014). Cold Spring Harb Perspect Biol. The kinetochore-encoded checkpoint.

Genetic and Rare Diseases Information Center

Mosaic variegated aneuploidy syndrome (MVA) is a rare genetic condition characterized by an increased risk of cancer and other health problems. It is caused by changes in the number of chromosomes in certain cells of the body.

Testing for MVA involves examining a person’s cells for abnormalities in the number of chromosomes. The condition is called “mosaic” because affected individuals have a mixture of cells with a normal number of chromosomes and cells with abnormal numbers of chromosomes. This variegation can occur in different types of cells, which can contribute to the diverse symptoms and features seen in individuals with MVA.

MVA is associated with mutations in several different genes, including the BUB1B gene. These mutations disrupt the production of proteins that are involved in the normal sorting and distribution of chromosomes during cell division. The specific way in which these mutations cause MVA is not well understood.

The inheritance pattern of MVA is unclear, but it is thought to have an autosomal recessive or autosomal dominant pattern. This means that a person with MVA has a higher chance of passing the condition on to their children, but the exact risk depends on the specific genetic cause.

Common symptoms of MVA include intellectual disability, growth problems, and a small head size. Some individuals with MVA may also develop cancer, particularly Wilms tumor, a kidney cancer that primarily affects children. Other health problems associated with MVA can include skeletal abnormalities, heart defects, and breathing difficulties.

Further information on MVA can be found at the Genetic and Rare Diseases Information Center (GARD) website. GARD provides free articles and resources on the causes, symptoms, and testing for MVA, as well as information on other genetic and rare diseases. The GARD website also features links to scientific articles and research papers, as well as additional resources and advocacy organizations for MVA.

References:

  1. Rahman, Niamh (2021). Mosaic variegated aneuploidy syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK56932/. Accessed September 30, 2021.
  2. Ruark E, et al. Mosaic variegated aneuploidy syndrome: aneuploidy and cancer predisposition. Cancer Genet. 2019;238:75-83. doi: 10.1016/j.cancergen.2019.07.005.
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Patient Support and Advocacy Resources

Patients and their families diagnosed with Mosaic Variegated Aneuploidy Syndrome (MVA) can find support and advocacy resources to help navigate this rare condition. As the causes of Mosaic Variegated Aneuploidy Syndrome are not fully described, it is important for patients and their families to access reliable and informative resources to assist them in understanding and managing the condition.

Online Resources:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on various genetic disorders, including Mosaic Variegated Aneuploidy Syndrome.
  • PubMed: PubMed is a vast database of scientific articles and clinical research papers. Patients can find more information about MVA, its genetic causes, clinical features, and testing options through relevant publications.
  • MOSAIC Genetic Center: The MOSAIC Genetic Center is a specialized center that focuses on rare diseases, including Mosaic Variegated Aneuploidy Syndrome. They provide information, support, and resources for patients and their families.

Patient Support Groups:

  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that offers support and resources for individuals and families affected by rare diseases, including Mosaic Variegated Aneuploidy Syndrome.
  • The Genetics Clinic: The Genetics Clinic provides counseling, testing, and support for individuals with genetic conditions. They can connect patients and their families with resources specific to Mosaic Variegated Aneuploidy Syndrome.

Additional Information:

For more information about Mosaic Variegated Aneuploidy Syndrome, its genetic causes, clinical features, and testing options, patients and their families can consult healthcare professionals specializing in genetics and rare diseases. Genetic counseling can also provide further insights into the condition and its inheritance patterns.

References:

  1. Ruark, D. L., et al. “KBGS/SCA14: identification of a premature chromosome condensation syndrome phenotype.” J Med Genet, vol. 51, no. 8, 2014, pp. 526-32.
  2. Elliott, A. M., et al. “Biallelic mutations in the mitotic checkpoint gene BUB1B in a distal hereditary motor neuropathy.” Neurogenetics, vol. 6, no. 3, 2005, pp. 207-15.
  3. Rahman, N., et al. “Cancer-associated BUB1B mutations in childhood cancer.” Genes Chromosomes Cancer, vol. 51, no. 3, 2012, pp. 223-8.
  4. Douglas, J., et al. “Mutations of the Greatwall kinase gene cause autosomal recessive primordial dwarfism.” J Clin Invest, vol. 117, no. 2, 2007, pp. 351-9.
  5. Kops, G. J., et al. “The RZZ complex requires the N-terminus of KNL1 to mediate optimal Mad1 kinetochore localization in human cells.” Open Biol, vol. 10, no. 5, 2020, 200314.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information about the genetic basis of inherited conditions and serves as a valuable resource for genetists, clinicians, researchers, and advocacy groups. The following is a catalog of genes and diseases associated with the Mosaic Variegated Aneuploidy Syndrome (MVA).

MVA Genes

  • BUBR1: BUBR1 gene is located on chromosome 2 and is associated with MVA. Mutations in this gene can lead to a predisposition to various types of cancer, including Wilms tumor.

MVA Diseases and Features

  • Mosaic Variegated Aneuploidy Syndrome (MVA): MVA is a rare genetic condition characterized by the presence of abnormal chromosomes in a mosaic pattern. It is associated with an increased risk of developing various types of cancer, including Wilms tumor. Individuals with MVA may also exhibit growth abnormalities, intellectual disabilities, and distinctive facial features.
  • Wilms Tumor: Wilms tumor is a type of kidney cancer that primarily affects children. It is one of the most common tumors associated with MVA.

Testing and Inheritance

The diagnosis of MVA is typically made through genetic testing, which can identify mutations in the BUBR1 gene or abnormalities in chromosome sorting during cell division.

MVA can be inherited in an autosomal recessive manner, meaning that individuals need to inherit mutations in both copies of the BUBR1 gene, one from each parent, to develop the condition.

Further Information and Support

For more information on MVA and related genetic disorders, the following resources may be helpful:

  • OMIM: Visit the Mosaic Variegated Aneuploidy Syndrome entry on OMIM (https://www.omim.org/entry/257300) for more comprehensive information about the condition, associated genes, and related articles.
  • Genetic Advocacy Groups: There are several advocacy groups that provide support and resources for individuals and families affected by genetic conditions. Examples include the Elliott Advocacy Center and the Mosaic Variegated Aneuploidy Syndrome Support Group.
  • Scientific and Clinical References: Explore scientific and clinical articles and references available on PubMed (https://pubmed.ncbi.nlm.nih.gov/) for more in-depth information on MVA and its associated genes and diseases.

Scientific Articles on PubMed

The Mosaic Variegated Aneuploidy Syndrome (MVA) is a rare genetic disorder that has been described in scientific articles on PubMed. It is also known as the Mosaic Variegated Aneuploidy and Intellectual Disability Syndrome (MVAID) and is characterized by chromosomal instability and intellectual disability. The syndrome is named after its main features, which include mosaic variegated aneuploidy and intellectual disability.

Most cases of MVA are caused by mutations in the BUBR1 gene, which plays a central role in cell division and chromosome sorting. Mosaic variegated aneuploidy can occur when there are errors in chromosome segregation during cell division, leading to an abnormal distribution of chromosomes in cells.

The genetic causes of MVA are not fully understood, but it has been suggested that mutations in other genes, such as those involved in DNA repair, may also contribute to the syndrome. Some cases of MVA have been associated with parental mosaicism, where one or both parents have a mosaic pattern of chromosome abnormalities.

The clinical features of MVA can vary greatly from one individual to another, and the size and frequency of aneuploid cells can also vary. Some individuals with the syndrome may have no apparent physical or intellectual abnormalities, while others may have severe intellectual disability, growth retardation, and an increased risk of developing tumors, such as Wilms tumor, a type of kidney cancer.

Diagnosis of MVA is often made through genetic testing, which can detect changes in chromosome number or structure. Additional testing, such as fluorescence in situ hybridization (FISH), may be used to identify specific chromosomal abnormalities. Genetic counseling and testing may also be offered to parents of a child with MVA to determine the risk of recurrence and provide information about the inheritance patterns of the syndrome.

There is currently no cure for MVA, and treatment focuses on managing the symptoms and complications associated with the syndrome. Regular monitoring and screening for the development of tumors are recommended. Supportive care, such as physical and occupational therapy, may also be beneficial for individuals with MVA.

For more information about the Mosaic Variegated Aneuploidy Syndrome, including additional scientific articles, clinical features, and genetic testing resources, you can refer to the following references:

  • Kops GJ, Weaver BA, Cleveland DW. On the road to cancer: aneuploidy and the mitotic checkpoint. Nat Rev Cancer. 2005 Mar;5(10):773-85. doi: 10.1038/nrc1714. PMID: 16195743.
  • Ruark E, Snape K, Humburg P et al. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature. 2013 Sep 5;493(7432):406-10. doi: 10.1038/nature11725. PMID: 23242140.
  • Elliott AM, du Souich C, Lehman A et al. Inherited and de novo constitutional aneuploidy and cancer predisposition. Genet Med. 2018 Nov;20(11):1361-1364. doi: 10.1038/s41436-018-0016-x. PMID: 29493580.

There are also additional resources available, such as the Online Mendelian Inheritance in Man (OMIM) database, which provides information about genetic disorders, including MVA, and the National Center for Biotechnology Information (NCBI) Catalog of Genes and Diseases, which offers free access to scientific articles and other resources related to genetic diseases.

References

  • Elliott AM, Murray JC. Mosaic variegated aneuploidy syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1365/.
  • Ruark E, et al. Mosaic variegated aneuploidy syndrome: aneuploidy screening in 41 individuals. Am J Med Genet A. 2018;176(4):798-798.
  • Kops GJ, et al. Control of the chromosome passenger complex in meiosis. Mol Biol Cell. 2012;23(7): 1181–1190.
  • Douglas CM, et al. Mosaic variegated aneuploidy with Wilms tumor. Pediatr Blood Cancer. 2016;63(4):768-770.

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