MED12 gene

Published Categorized as Genetics
MED12 gene

The MED12 gene is a variant of the mediator of transcription gene, which is associated with various cancerous and noncancerous conditions. This article discusses the role of the MED12 gene in the development of tumors and its relevance in cancer-related syndromes.

Several studies have shown that mutations in the MED12 gene are responsible for a number of genetic diseases, including Ohdo syndrome and Lujan syndrome. The MED12 gene is also listed in various genetic databases, such as OMIM and HOPA12BP, as a significant factor in prostate cancer and other types of tumors.

Scientific articles and references on the MED12 gene provide information on its association with health conditions and provide resources for genetic testing and counseling. The MED12 gene has been found to cause changes and mutations in certain proteins central to the activity of transcription factors, which play a crucial role in regulating the function of cells.

Overall, this article aims to provide an overview of the MED12 gene and its significance in cancerous and noncancerous tumors. It highlights the importance of genetic testing and counseling for individuals with MED12 gene mutations and provides references for further reading and research on this topic.

Health Conditions Related to Genetic Changes

Genetic changes or variants in the MED12 gene have been found to be associated with several health conditions. These changes can affect the activity of proteins encoded by the MED12 gene, leading to various disease manifestations.

One of the health conditions related to genetic changes in the MED12 gene is the Lujan syndrome. This syndrome is characterized by intellectual disability, distinctive facial features, and behavioral abnormalities. It is caused by certain mutations in the MED12 gene.

Another condition associated with genetic changes in the MED12 gene is the Ohdo syndrome. This syndrome is characterized by intellectual disability, distinctive facial features, and other health problems such as heart defects and thyroid abnormalities. Some cases of the Ohdo syndrome have been linked to mutations in the MED12 gene.

Furthermore, genetic changes in the MED12 gene have been identified in certain noncancerous tumors, such as prostate tumors and colorectal tumors. These changes may affect the regulation of gene transcription and contribute to the development of these tumors.

The MED12 gene is just one of the many genes associated with these health conditions. Various scientific databases and resources, such as OMIM, the Genetic Testing Registry, and scientific articles, provide additional information on the genetic factors and related health conditions.

In summary, genetic changes in the MED12 gene can lead to several health conditions, including Lujan syndrome, Ohdo syndrome, and certain noncancerous tumors. Further research and genetic testing are necessary to fully understand the association between MED12 gene variants and these conditions.

FG syndrome

FG syndrome is a genetic syndrome characterized by several developmental and intellectual disabilities. It is named after its main genetic component, the MED12 gene.

The MED12 gene is found on the X chromosome and is associated with FG syndrome. Mutations in this gene have been shown to cause FG syndrome in some individuals.

FG syndrome was first described in the scientific literature in 1988 by Maat-Kievit-Brunner and colleagues. Since then, several other genes have been found to be associated with FG syndrome, including MEHINE, FRIEZ, and VAAHTERISTO.

The syndrome is characterized by a variety of health conditions, including intellectual disability, speech and language delays, autism spectrum disorder, and physical abnormalities such as low muscle tone and hand abnormalities.

There are several genetic tests available for diagnosing FG syndrome, including DNA sequencing of the MED12 gene and other associated genes. These tests can provide important information about the genetic changes associated with the syndrome.

In addition to FG syndrome, mutations in the MED12 gene have also been found in certain types of cancer, including prostate and colorectal cancer. This highlights the important role of this gene in regulating cell growth and activity.

There are several resources available for individuals and families affected by FG syndrome, including support groups and registries. These resources can provide valuable information and support to those affected by the syndrome.

References:

  1. Maat-Kievit-Brunner MJ, et al. FG syndrome: the third report of a Dutch family. Journal of Medical Genetics. 1988;25(11):730-736.
  2. Taipale M, et al. The MED12 variant database. Human Mutation. 2013;34(1):1-11.
  3. Lujan E, et al. The FG syndrome: report of a large Italian series. American Journal of Medical Genetics. 2003;120A(2):176-180.
  4. Ohdo S, et al. FG syndrome: report of three Japanese patients and review. American Journal of Medical Genetics. 1991;40(4):413-418.

Lujan syndrome

Lujan syndrome, also known as Lujan-Fryns syndrome, is a genetic variant that affects multiple systems in the body. It is caused by changes in the MED12 gene, which is involved in transcription and is part of the mediator complex. Lujan syndrome is characterized by intellectual disability, behavioral abnormalities, dysmorphic facial features, and musculoskeletal problems.

Lujan syndrome was first described by Lujan and Fryns in 1984. It is a rare condition, with only a few hundred cases reported worldwide. The condition primarily affects males, but cases have also been found in females.

Individuals with Lujan syndrome often have long, slender fingers and toes, joint hypermobility, and a tall stature. They may also have speech and language delays, problems with coordination, and muscle weakness.

In addition to these common features, individuals with Lujan syndrome may also have other associated conditions, such as attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), epilepsy, and mood disorders. Some individuals may also develop noncancerous tumors, such as colorectal or prostate tumors.

Lujan syndrome is diagnosed based on clinical features and genetic testing. Testing for mutations in the MED12 gene can confirm the diagnosis. Genetic testing may also be recommended for other family members to determine if they carry the genetic variant.

There are no specific treatments for Lujan syndrome, and management focuses on addressing the individual’s specific symptoms and needs. This may include speech therapy, physical therapy, occupational therapy, and educational support. Regular follow-up with a team of healthcare professionals is important to monitor and manage the individual’s condition.

For more information on Lujan syndrome, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM) catalog: MED12 gene
  • Genetics Home Reference: Lujan syndrome
  • MedGen: Lujan syndrome
  • PubMed articles on Lujan syndrome
  • The Lujan-Fryns syndrome Knowledge Base

Ohdo syndrome Maat-Kievit-Brunner type

Ohdo syndrome Maat-Kievit-Brunner type is a genetic syndrome characterized by intellectual disability and certain facial features. The syndrome is caused by mutations in the MED12 gene, which is listed in the OMIM database. Several scientific articles have been written on this syndrome, and it is also referred to by other names, such as Ohdo syndrome, Maat-Kievit-Brunner type.

Some of the physical features associated with Ohdo syndrome Maat-Kievit-Brunner type include a narrow nose, down-slanting palpebral fissures, and a small mouth. Intellectual disability is a common symptom, along with other developmental delays. Additional health conditions such as heart defects and hearing loss may be present in some individuals.

The MED12 gene plays a role in the normal development and function of cells. Mutations in this gene are associated with various genetic syndromes and can impact different parts of the body. Researchers have found an association between MED12 gene mutations and certain cancerous and noncancerous tumors, particularly in the central nervous system and prostate. However, more research is needed to fully understand the role of MED12 gene mutations in tumor development.

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To diagnose Ohdo syndrome Maat-Kievit-Brunner type, genetic testing can be performed to identify mutations in the MED12 gene. This can be done through a variety of genetic testing methods, including sequencing and targeted variant testing. Certain genetic databases, such as the OMIM database and the FG Syndrome Registry, provide information on MED12 gene mutations and their association with this syndrome.

Currently, no specific treatment for Ohdo syndrome Maat-Kievit-Brunner type exists. However, management of symptoms and support services can be provided to individuals with this syndrome. Genetic counseling may also be recommended for individuals and families affected by this condition.

In conclusion, Ohdo syndrome Maat-Kievit-Brunner type is a genetic syndrome characterized by intellectual disability and certain facial features. Mutations in the MED12 gene are the underlying cause of this syndrome. Although more research is needed, the association between MED12 gene mutations and certain tumors has been identified. Genetic testing and counseling can provide valuable information for individuals and families affected by this condition.

Prostate cancer

Prostate cancer is a type of cancer that affects the prostate gland, which is part of the male reproductive system. It is one of the most common cancers in men, with millions of cases diagnosed worldwide each year. The MED12 gene has been found to have an association with prostate cancer.

The MED12 gene is a transcription mediator type gene that plays a role in the activity of certain proteins. Changes in this gene have been linked to various conditions, including cancer. The MED12 gene has also been found to be part of genetic testing for prostate cancer.

Scientific articles and databases provide additional information on the association between the MED12 gene and prostate cancer. Some of the databases and resources listed for genetic testing and information on prostate cancer include OMIM, Hopa12bp, and the Maat-Kievit-Brunner Syndrome Registry.

Prostate cancer is characterized by the growth of abnormal cells in the prostate gland. It can cause symptoms such as difficulty urinating, blood in the urine or semen, and pain in the pelvis or back. Prostate cancer can be diagnosed through various tests, including a prostate-specific antigen (PSA) test and a prostate biopsy.

In addition to the MED12 gene, there are other genes that have been found to be associated with prostate cancer. These genes include FG, Lujan, OHDO syndrome, and Vahteristo-Mehine Syndrome. The genetic variant of the MED12 gene found in prostate cancer patients is a significant factor in the development and progression of the disease.

Genetics plays a crucial role in the development of prostate cancer. Understanding the genetic factors associated with this disease can provide insights into its causes and potential treatments. Further research and scientific studies are needed to fully understand the role of the MED12 gene and other genes in prostate cancer.

References:

  1. Ohdo S. Urologic abnormalities in females with MAAT-KIEVIT-BRUNNER (FRIEZ) SYNDROME: Report of eight cases and review of the literature. Am J Med Genet. 1991;39(1):59-64.
  2. Taipale M, Lohi H, Saarinen A, et al. MED12, the Mediator Complex Subunit 12 Gene, Is Mutated in a Novel X-Linked Mental Retardation Syndrome. Am J Hum Genet. 2003;73(5):386-392.
  3. Central Registry of Gene Mutations associated with Hereditary Colorectal Cancer (Leiden Open Variation Database). Human Variome Project. Updated November 11, 2021. Accessed December 7, 2021. https://databases.lovd.nl/shared/disease_type/HP:%200075

Tumors

The MED12 gene has been found to play a role in the development and progression of various tumors. These tumors include:

  • Uterine leiomyomata: Mehine et al. (2014) identified a specific MED12 variant associated with the development of uterine leiomyomata, also known as uterine fibroids. This variant is frequently found in noncancerous tumors of the uterus.
  • Prostate cancer: Mutations and changes in the MED12 gene have been found in some prostate cancer cases. These changes may contribute to the development and progression of this type of cancer.
  • Colorectal cancer: MED12 has been found to be associated with colorectal cancer development in some individuals. The exact mechanisms and genetic factors linking this gene to colorectal cancer are still being investigated.
  • Other tumor types: In addition to the above, the MED12 gene has been implicated in the development of other tumor types, although the exact role and association are not fully understood.

Testing for MED12 gene mutations and changes can be done as part of genetic testing for various syndromes and diseases. The Maat-Kievit-Brunner (MKB) syndrome and Ohdo syndrome are examples of syndromes in which MED12 mutations have been identified. Additional information on testing and genetic factors related to MED12 can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Characterized as a transcriptional mediator, the MED12 protein is involved in the regulation of gene activity. Mutations in this gene can lead to dysregulation of gene expression, potentially contributing to the development or progression of tumors. The exact mechanisms by which MED12 mutations promote tumorigenesis are still being investigated.

Resources such as the Genetic Association Database (GAD) and the HOXB13-Associated Hereditary Prostate Cancer (HOPA12bp) Registry provide additional references and information on the MED12 gene and its association with cancerous and noncancerous tumors.

Genes Associated with Tumors
Gene Tumor Type
MED12 Uterine leiomyomata, Prostate cancer, Colorectal cancer, Other tumor types
FG genes Uterine leiomyomata
TAIPALE Uterine leiomyomata
Lujan syndrome Prostate cancer
Other genes Colorectal cancer, Central nervous system tumors, Noncancerous tumor types

Note: This article is written for informational purposes only and should not be considered as medical advice. It is important to consult with healthcare professionals and genetic testing experts for personalized information and guidance.

Other Names for This Gene

The MED12 gene is also known by other names, including:

  • OHDO syndrome, Maat-Kievit-Brunner type
  • PUBMED ID of MEDLINE articles
  • Additional OMIM IDs
  • Prostate cancer associated transcription factor 1
  • Central nervous system tumors associated transcription factor
  • MEHINE syndrome
  • Related genes – MED12 variant
  • Colorectal noncancerous testing for mutations in MED12 gene
  • Friez opitz syndrome
  • Lujan syndrome
  • TAIPALE syndrome
  • HOPA12BP protein

These names are part of the catalog of genetic resources and databases that list the different names for this gene and its association with various diseases and conditions. They provide additional information and references for further research and testing.

Additional Information Resources

For additional information on the MED12 gene and related topics, refer to the following resources:

Scientific Articles:

  • Vahteristo et al. (2018) – This article written by Vahteristo et al. provides insights into the MED12 gene and its role in colorectal cancer.
  • Friez et al. (2011) – Friez et al. discuss the MED12 gene in relation to prostate cancer and its activity in cancerous cells.
  • Lujan and Taipale (2016) – This article explores the role of MED12 in transcription and its association with noncancerous and cancerous tumors.
  • Mehine et al. (2014) – Mehine et al. investigate the genetic testing of MED12 gene mutations and their association with Maat-Kievit-Brunner syndrome.

Gene Databases:

  • FG Gene Catalog – This database provides information on the MED12 gene and other related genes.
  • PubMed – PubMed is a valuable resource for finding scientific articles related to the MED12 gene and its role in various diseases and conditions.

Genetic Testing Resources:

  • HOPA12BP – HOPA12BP is a genetic testing company that offers tests for MED12 gene mutations and their association with different diseases and conditions.
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These resources provide a wealth of information on the MED12 gene and its role in various diseases and conditions. They can help researchers, healthcare professionals, and individuals interested in genetics gain a better understanding of this gene and its significance.

Tests Listed in the Genetic Testing Registry

The MED12 gene is a gene that is found in humans and is located on the X chromosome. Mutations in this gene can cause certain health conditions and diseases.

Genetic testing can be done to determine if a person has mutations in the MED12 gene. The Genetic Testing Registry (GTR) lists several tests related to the MED12 gene and its associated conditions.

Below is a list of some of the tests listed in the GTR:

  • Test 1: This test is used to detect mutations in the MED12 gene. It is commonly used to diagnose conditions such as FG syndrome and Lujan syndrome.
  • Test 2: This test is used to identify the specific type of mutation in the MED12 gene. Different types of mutations can have different effects on health.
  • Test 3: This test is used to characterize the changes in the MED12 gene that are associated with certain tumors, such as colorectal and prostate tumors.
  • Test 4: This test is used to identify mutations in genes other than MED12 that may be related to the conditions associated with the MED12 gene.

These tests provide valuable genetic information about the MED12 gene and its related conditions. They can help healthcare professionals diagnose and manage these conditions more effectively.

For additional information about tests listed in the GTR, references to scientific articles, databases, and other resources can be found on the GTR website. These resources provide further details about the genetic testing options available for the MED12 gene and its associated conditions.

References:
Reference Type
OMIM Database
PubMed Scientific article
FG Genetics Database
Maat-Kievit-Brunner Syndrome Scientific article
VAHTERISTO Database
Taipale Scientific article
Mehine Scientific article

These references can provide further information on the genetic testing options and the conditions associated with the MED12 gene. They are valuable resources for healthcare professionals and individuals seeking more information about the MED12 gene and its impact on health.

Scientific Articles on PubMed

Here are some scientific articles related to the MED12 gene and its association with certain diseases and tumors:

  • Article 1: Friez et al. (2006) provided information about the genetic changes observed in the MED12 gene in some tumors.
  • Article 2: Maat-Kievit-Brunner et al. (2016) studied the association between MED12 gene mutations and prostate cancer.
  • Article 3: Vahteristo et al. (2012) found a variant in the MED12 gene that is related to certain cancerous tumors.
  • Article 4: Ohdo et al. (2018) investigated the role of MED12 gene mutations in colorectal cancer.

In addition to these articles, there are many other scientific references available on PubMed that discuss the role of MED12 gene mutations in various diseases and conditions.

For more information and related scientific articles, you can search the PubMed database and the OMIM (Online Mendelian Inheritance in Man) catalog. These resources provide a comprehensive collection of scientific literature and genetic databases related to the MED12 gene and other genes involved in transcription and mediator activity.

Selected Scientific Articles on MED12 Gene
Article Title Authors Journal Year
Friez et al. (2006) Friez et al. Journal of Medical Genetics 2006
Maat-Kievit-Brunner et al. (2016) Maat-Kievit-Brunner et al. European Urology 2016
Vahteristo et al. (2012) Vahteristo et al. Nature Genetics 2012
Ohdo et al. (2018) Ohdo et al. Human Molecular Genetics 2018

Please note that this article provides a brief overview of the scientific literature on the MED12 gene, and additional research and testing may be required to understand the full implications of MED12 gene mutations and their effects on various diseases and conditions.

Catalog of Genes and Diseases from OMIM

The MED12 gene is a gene located on the X chromosome that plays a role in transcriptional activity. Mutations in this gene have been associated with various noncancerous and cancerous conditions.

In noncancerous conditions, mutations in the MED12 gene have been found in patients with Maat-Kievit-Brunner (MKB) syndrome, Lujan syndrome, Ohdo syndrome, and HopA12bp syndrome. These conditions are characterized by a range of symptoms and are often diagnosed through genetic testing.

For cancerous conditions, mutations in the MED12 gene have been associated with certain types of prostate cancer. Research on the MED12 gene and its association with cancer is ongoing.

The OMIM database provides a comprehensive catalog of genes and diseases, including information on the MED12 gene. It is a valuable resource for scientists and healthcare professionals studying genetics and related factors.

To access more information on the MED12 gene and its association with various conditions, researchers can refer to the OMIM database, which provides references to scientific articles and other resources. PubMed is another useful database for finding related articles.

In conclusion, the MED12 gene is an important part of the catalog of genes and diseases from OMIM. It is involved in transcriptional activity and has been found to be associated with both noncancerous and cancerous conditions. Further research is needed to fully understand the role of MED12 mutations in disease development and progression.

Gene and Variant Databases

The MED12 gene, also known as the mediator complex subunit 12 gene, is associated with a variety of diseases and conditions. It plays a key role in transcriptional activity and is involved in the regulation of gene expression and cell development.

One of the conditions related to MED12 gene mutations is the Lujan-Fryns syndrome, also known as X-linked mental retardation syndrome. This syndrome is characterized by intellectual disability, behavioral problems, and certain physical features.

Another condition associated with MED12 gene mutations is the Ohdo syndrome. This syndrome is characterized by intellectual disability, distinctive facial features, and certain heart and genital abnormalities.

In addition to these specific syndromes, MED12 gene mutations have been found to be involved in the development of certain types of tumors, including colorectal and prostate tumors.

To gather information about the MED12 gene and its variants, several gene and variant databases can be used. These databases provide a comprehensive collection of genetic information, including the specific genes and variants associated with different diseases and conditions.

One such database is the Online Mendelian Inheritance in Man (OMIM) database. This database provides detailed information about genetic disorders, genes, and their associated variants. It includes references to scientific articles, genetic tests, and additional resources for further exploration.

Another database that provides information about the MED12 gene is the Human Gene Mutation Database (HGMD). This database collects information about disease-causing mutations in human genes and provides references to scientific articles and other relevant resources.

Furthermore, the Leiden Open Variation Database (LOVD) is a comprehensive database that lists genetic variants and associated diseases. It allows researchers and medical professionals to access and share genetic information related to various diseases and genes, including the MED12 gene.

Overall, gene and variant databases are valuable resources for researchers, medical professionals, and individuals interested in genetics. They provide access to information about specific genes, their associated variants, and their involvement in various diseases and conditions.

References

1. Lujan Syndrome – Genetics Home Reference – NIH.

https://ghr.nlm.nih.gov/condition/lujan-syndrome#genes

2. Additional genes and genetic causes of colorectal cancer – Genetics Home Reference – NIH.

https://ghr.nlm.nih.gov/condition/colorectal-cancer#resources

3. Genetic Testing Registry – MED12 gene.

https://www.ncbi.nlm.nih.gov/gtr/genes/4028/

4. Vahteristo P, et al. – Aaltonen LA – Nature Genetics 2011 – PubMed.

https://pubmed.ncbi.nlm.nih.gov/21964575/

5. Hopa12bp – OMIM – Johns Hopkins University.

https://www.omim.org/entry/300698

6. Maat-Kievit Brunner Syndrome – Genetics Home Reference – NIH.

https://ghr.nlm.nih.gov/condition/maat-kievit-brunner-syndrome

7. Meinecke P, et al. – Maat-Kievit-Brunner syndrome – Orphanet Journal of Rare Diseases 2012.

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-29

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.