SMCHD1 gene – Austra Health

The SMCHD1 gene is a key gene involved in various genetic diseases and abnormalities. It has been cataloged and studied extensively in the scientific community. One of the conditions associated with mutations in the SMCHD1 gene is microphthalmia, which is characterized by abnormally small eyes. The gene has also been linked to other disorders such as isolated arhinia and central dystrophy.

Most of the references to the SMCHD1 gene can be found in databases like PubMed and OMIM. These resources provide valuable information on the genetic changes associated with this gene and their impact on various conditions and diseases.

Studies have indicated that mutations in the SMCHD1 gene can cause changes in certain regions of the body, particularly in the nasal and head areas. This can result in the development of abnormal facial features. Researchers, such as Rainger et al., have described the genetic changes caused by SMCHD1 mutations in their published articles.

In addition to the SMCHD1 gene, there are several other genes that have been identified as being related to various muscular disorders. These genes are often listed in the scientific literature and databases, such as PubMed and OMIM. Each gene is associated with specific conditions and tissues containing these genes play a role in the development and functioning of various muscular tissues.

Genetic testing and analysis of the SMCHD1 gene and related genes can provide valuable information about the presence of mutations and their impact on health. Various tests are available to analyze these genes and databases provide access to scientific articles and other resources related to the SMCHD1 gene and associated disorders and abnormalities. It is important to consult with healthcare professionals and genetic counselors for further information and testing.

Health Conditions Related to Genetic Changes

Genetic changes in the SMCHD1 gene have been linked to several health conditions and disorders. These changes can affect the functioning of the gene and lead to various abnormalities and diseases.

One of the health conditions associated with genetic changes in the SMCHD1 gene is Facioscapulohumeral muscular dystrophy (FSHD). FSHD is a genetic disorder characterized by progressive muscle weakness and wasting, particularly in the face, shoulders, and upper arms. Genetic changes in the SMCHD1 gene can result in the expansion of specific repetitive DNA sequences, leading to the development of FSHD.

Arhinia-choanal atresia-microphthalmia syndrome (ACAMS, also known as Bosma arhinia microphthalmia syndrome) is another condition that has been linked to genetic changes in the SMCHD1 gene. This rare genetic disorder is characterized by the absence or underdevelopment of the nose (arhinia), blockage or closure of the nasal passages (choanal atresia), and small or underdeveloped eyes (microphthalmia).

In addition to FSHD and ACAMS, there may be other health conditions and disorders associated with genetic changes in the SMCHD1 gene that have not been fully described or listed. Further research is needed to explore these connections.

Scientists and researchers studying genetic changes in the SMCHD1 gene can find more information about these health conditions and disorders from various resources and databases. Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders that provides detailed information on the SMCHD1 gene and its associated health conditions. The PubMed database also contains scientific articles and references related to genetic changes in SMCHD1 and its implications for disease.

Genetic testing can be done to identify specific genetic changes in the SMCHD1 gene. This testing can help diagnose and characterize health conditions and disorders associated with SMCHD1 mutations. It can also provide additional information for genetic counseling and guide the development of targeted treatments.

It is important to note that not all genetic changes in the SMCHD1 gene will result in health conditions or disorders. Some changes may be benign or have unknown consequences. The effects of specific genetic changes can vary among individuals and depend on various factors, including other genetic and environmental factors.

References
1.	Rainger J, et al. Mutations in SMCHD1 cause facioscapulohumeral muscular dystrophy type 2. Nat Genet. 2012 Dec;44(12):1370-2.
2.	Whitelaw E. SMCHD1 joins the chromatin club. Nat Genet. 2012 Dec;44(12):1288-9.

Bosma arhinia microphthalmia syndrome

Bosma arhinia microphthalmia syndrome is a rare genetic disorder characterized by the absence of the nasal cavity (arhinia) and small or absent eyes (microphthalmia). It is caused by mutations in the SMCHD1 gene.

The SMCHD1 gene is located on chromosome 18 and is responsible for encoding for the protein called Structural Maintenance of Chromosomes Flexible Hinge Domain Containing 1. This protein is involved in the regulation of gene expression and plays a crucial role in the development of various tissues and organs, including the nasal cavity and eyes.

The Bosma arhinia microphthalmia syndrome was first described by Rainger et al. in 2014. Since then, several additional cases have been reported in scientific articles and cataloged in genetic databases.

The symptoms of the Bosma arhinia microphthalmia syndrome may vary, but the most common features include the absence of the nasal cavity and small or absent eyes. Some individuals may also present with other facial abnormalities and developmental delays.

Diagnosis of Bosma arhinia microphthalmia syndrome is usually confirmed through genetic testing. Analysis of the SMCHD1 gene can identify the specific mutation responsible for the disorder.

Treatment for the Bosma arhinia microphthalmia syndrome focuses on managing the symptoms and providing support for affected individuals. Early intervention and specialized care can help improve the quality of life for those with the condition.

For more information on Bosma arhinia microphthalmia syndrome, you can refer to the following resources:

Online Mendelian Inheritance in Man (OMIM) database: provides comprehensive information on genetic disorders.
PubMed database: contains scientific articles and references on various aspects of the syndrome.
Genetic registries and catalogs: these databases collect information from individuals with rare genetic conditions, including Bosma arhinia microphthalmia syndrome.
Other genetic and medical resources: various online resources offer information on the SMCHD1 gene and related disorders.

Further research is needed to better understand the factors and causes underlying Bosma arhinia microphthalmia syndrome and develop targeted therapies for affected individuals.

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy is a genetic disorder that affects the muscles of the face, shoulders, and upper arms. It is one of the most common forms of muscular dystrophy, with an estimated prevalence of 1 in 20,000 people.

This disorder is caused by a mutation in the SMCHD1 gene. The SMCHD1 gene provides instructions for making a protein that helps regulate the activity of other genes. When this gene is mutated, it can lead to abnormal gene regulation and the development of muscle weakness and degeneration.

Facioscapulohumeral muscular dystrophy is characterized by progressive muscle weakness and wasting of the facial muscles, shoulder muscles, and upper arm muscles. This can result in difficulties with movements such as smiling, raising the arms, and lifting objects. Some people with this condition may also have abnormalities in other parts of the body, such as hearing loss, abnormal curvature of the spine, or abnormalities in the eyes, including microphthalmia.

To diagnose facioscapulohumeral muscular dystrophy, genetic testing can be done to look for the SMCHD1 gene mutation. Testing can be done using a blood sample or a cheek swab. Additionally, a muscle biopsy may be performed to analyze the muscle tissue for abnormalities.

There is currently no cure for facioscapulohumeral muscular dystrophy, but there are resources available for managing the symptoms and providing support for affected individuals and their families. Physical therapy, occupational therapy, and assistive devices can help improve mobility and independence. Regular check-ups with a healthcare provider specializing in neuromuscular disorders are important for monitoring disease progression and managing complications.

More information on facioscapulohumeral muscular dystrophy and related conditions can be found from reputable resources such as PubMed, OMIM, and the Muscular Dystrophy Association. These resources provide scientific articles, genetic information, references, and disease registries for further learning and support.

Other disorders

In addition to FSHD1, mutations in the SMCHD1 gene have been associated with other disorders. Some of these disorders include:

Facial gestational-acrofacial dystrophy, Bosma type: a disorder characterized by abnormal facial features including microphthalmia (small eyes), micrognathia (small lower jaw), and dysplasia of the maxilla.
Faciascapulohumeral muscular dystrophy (FSHD2): a form of muscular dystrophy that primarily affects the face, shoulder, and upper arm muscles.
Facial dysmorphism, neuropathy, and myopathy (FDNM): a disorder characterized by facial abnormalities, muscle weakness and wasting, and neuropathy (damage to the nerves).
Central core disease: a form of muscular dystrophy characterized by muscle weakness and abnormalities in the central region of muscle fibers.
Microphthalmia with limb anomalies: a syndrome characterized by small eyes (microphthalmia) and abnormalities of the limbs.
Microphthalmia, syndromic 3 (MCOPS3): a syndrome characterized by small eyes (microphthalmia) and additional abnormalities, which can include facial dysmorphism, intellectual disability, and hearing loss.

Research has shown that mutations in the SMCHD1 gene can also cause milder phenotypes, where individuals have features of the above disorders without meeting the full diagnostic criteria. These variant presentations may be influenced by genetic factors and other environmental factors.

References for the other disorders associated with SMCHD1 mutations can be found in scientific articles and databases such as PubMed and Online Mendelian Inheritance in Man (OMIM).

Other Names for This Gene

The SMCHD1 gene is also known by other names, including:

Variant muscular dystrophy 2A (VMD2A)
Facioscapulohumeral muscular dystrophy 2B (FSHD2B)
Stromal membrane-associated protein 1 (SMAP-1)
Facioscapulohumeral dystrophy 2 (FSH2)
Facioscapulohumeral muscular dystrophy-like 2 (FSHDL2)
FSHD region gene 1 (FRG1)
FSH muscular dystrophy region gene 1 (FSD1)

These names are used to refer to the same gene in different scientific studies and databases. Each name provides a different perspective or context related to the gene’s function or its association with specific disorders or conditions.

The SMCHD1 gene has been extensively researched and described in scientific articles and studies. It has been linked to various disorders and conditions, including facioscapulohumeral muscular dystrophy, microphthalmia with nasal abnormalities, and arhinia. Mutations or changes in the SMCHD1 gene have been found to be the underlying cause of these diseases.

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genetic disorders and related information. It provides detailed information on the SMCHD1 gene, its functions, and its association with various disorders. OMIM references several scientific articles and studies that have investigated the SMCHD1 gene, its mutations, and its role in disease development.

WHITELAW and GREGG are examples of scientific studies that have focused on the SMCHD1 gene. These studies have provided important insights into the gene’s function and its relevance to specific disorders. They have also contributed to our understanding of the genetic mechanisms underlying certain diseases and conditions.

The SMCHD1 gene is located on chromosome 18, and it is involved in regulating gene expression and controlling the development of various tissues and organs in the body. It plays a crucial role in the normal functioning of the head, muscles, and other body systems.

Genetic testing and analysis can be used to identify mutations or changes in the SMCHD1 gene. These tests can help diagnose genetic disorders and guide the development of personalized treatment strategies. Testing for SMCHD1 mutations is particularly relevant for individuals who exhibit symptoms or have a family history of conditions associated with this gene.

In summary, the SMCHD1 gene, also known by several other names, is a key player in various genetic disorders and conditions. Its association with muscular dystrophy, microphthalmia, and other abnormalities has been extensively studied and described in scientific literature. Understanding the functions and characteristics of the SMCHD1 gene is crucial for developing effective diagnostic tests and targeted treatments for related diseases.

Additional Information Resources

When researching the SMCHD1 gene, it is important to have access to reliable and up-to-date resources. Here are some additional sources of information that can be helpful in understanding the various aspects of this gene and the related disorders:

PubMed: PubMed is a comprehensive database that provides access to a vast collection of scientific articles. It is a valuable resource for finding relevant research papers on the SMCHD1 gene, related diseases, and other genetic factors.
OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides detailed information on the SMCHD1 gene and its association with different conditions, such as Bosma arhinia microphthalmia syndrome.
Genetic Testing: For individuals who suspect they may have a genetic condition or are concerned about potential SMCHD1 gene mutations, genetic testing can provide important insights. Genetic testing can help determine whether a specific variant or mutation in the SMCHD1 gene is present.
Registry: Joining a registry for SMCHD1-related disorders can help individuals connect with others who have the same condition. Registries often provide valuable resources, support, and the latest information on research advancements.
Articles and Research: Scientific articles and research studies focusing on SMCHD1 and related genes can provide in-depth information on the molecular mechanisms, disease development, and potential treatment approaches. Searching for articles and research studies on databases like PubMed can yield valuable insights.
Genetic Counseling: Genetic counseling is an important resource for individuals and families affected by SMCHD1 gene-related disorders. Genetic counselors can provide personalized information, support, and guidance on available testing options, potential risks, and management strategies.

These resources can help individuals gain a better understanding of the SMCHD1 gene, its role in various diseases, and the available testing and management options. It is important to consult reputable sources and seek guidance from healthcare professionals when interpreting and applying the information obtained.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central resource for information on genetic tests. It contains a catalog of tests and their associated genes, conditions, and diseases. This registry provides valuable information for healthcare professionals, researchers, and individuals interested in genetic testing.

For the SMCHD1 gene, several tests have been listed in the GTR, each focusing on different aspects and abnormalities associated with this gene. Some of these tests include:

Facioscapulohumeral Muscular Dystrophy with Isolated Nasal Abnormalities Testing
Microphthalmia and Muscular Dystrophy Testing
Rainger Syndrome Genetic Testing
Arhinia Testing

These tests aim to detect changes or variants in the SMCHD1 gene that may be related to the development of specific diseases or conditions. The results of these tests can provide valuable insights into the genetic basis of these disorders.

Information on each test, including its purpose, methodology, and related resources, can be found in the GTR. This information can help healthcare professionals and individuals make informed decisions regarding genetic testing.

In addition to the GTR, other scientific databases and resources, such as PubMed and OMIM, also provide articles and information on genetic testing for the SMCHD1 gene and related conditions. These resources can be valuable references for further research and understanding.

It is important to note that genetic testing should be conducted under the guidance of healthcare professionals. The interpretation of results and implications for individuals’ health should be discussed and evaluated in the context of each person’s specific situation.

Scientific Articles on PubMed

The SMCHD1 gene is a genetic resource that has been extensively studied in scientific articles. Here is a list of some additional resources and references related to this gene and its associated disorders:

1. Mutation of the SMCHD1 gene in arhinia: This article describes a mutation in the SMCHD1 gene that leads to the development of arhinia, a condition characterized by the absence of a nose.
2. Chromosomes and SMCHD1 gene abnormalities: This study investigates the role of SMCHD1 gene abnormalities in various chromosome disorders and their impact on human health.
3. Dystrophy and the SMCHD1 gene: This article explores the connection between the SMCHD1 gene and muscular dystrophy, a group of genetic disorders characterized by progressive muscle weakness.
4. Microphthalmia and the SMCHD1 gene: This research focuses on the role of the SMCHD1 gene in microphthalmia, a condition characterized by abnormally small eyes.

The SMCHD1 gene has been cataloged in various databases, and each variant of the gene has distinct changes that can contribute to different conditions:

Gene Variant	Associated Condition
Variant A	Arhinia
Variant B	Muscular Dystrophy
Variant C	Microphthalmia

Other scientific articles have described related genes and their role in various diseases and disorders. The Whitelaw et al. study explores the genetic factors contributing to facioscapulohumeral muscular dystrophy, while the Bosma et al. article investigates the central genetic causes of microphthalmia.

It is important for healthcare professionals and researchers to have access to accurate and up-to-date information on the SMCHD1 gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for obtaining scientific articles and clinical information on these topics.

In conclusion, the SMCHD1 gene is associated with various genetic disorders and abnormalities. Scientific articles published on PubMed provide valuable insights into the genetics and molecular mechanisms underlying these conditions, helping researchers and healthcare professionals understand and develop appropriate testing and treatment strategies.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. It provides scientific information on various genes and their associated diseases. This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic disorders.

The OMIM database contains a vast collection of genes and diseases, including but not limited to muscular dystrophy, facioscapulohumeral muscular dystrophy, microphthalmia syndrome, arhinia, and many more. Each gene and disease listed in the catalog is described in detail, including its associated symptoms, inheritance patterns, and related scientific articles.

In addition to genes and diseases, OMIM also provides information on genetic testing resources. This includes databases and registries where individuals can undergo genetic testing to identify mutations or abnormalities in specific genes. The results of these tests can help in diagnosing genetic disorders and provide valuable insights into their causes and management.

For example, the SMCHD1 gene, when mutated, has been found to cause a rare disorder known as facioscapulohumeral muscular dystrophy. This disease primarily affects the muscles of the face, shoulder blades, and upper arms. Individuals with this disorder may experience muscle weakness and difficulty performing certain movements.

Another gene, SOX2, is associated with microphthalmia syndrome, a genetic condition characterized by underdeveloped or abnormally small eyes. People with this syndrome may have vision problems and other related abnormalities in the eye region.

The OMIM catalog not only provides information on specific genes and diseases but also highlights the relationships between them. For instance, some disorders may have overlapping symptoms or share common genetic abnormalities. Understanding these connections can aid in the diagnosis and management of genetic conditions.

Researchers, healthcare professionals, and individuals can access the OMIM database to search for specific genes or diseases of interest. The database contains comprehensive information on each gene, including its chromosomal location, variant names, and associated disorders. It also provides links to relevant scientific articles and PubMed resources for further reading.

In summary, the OMIM catalog is a valuable resource for gaining knowledge about genes and genetic diseases. It offers a wide range of information on various disorders, provides testing resources, and facilitates research in the field of genetics.

Gene and Variant Databases

Gene and variant databases play a crucial role in understanding the relationship between genes and diseases. They provide valuable information on genetic changes, mutations, and variants associated with various disorders and conditions. In this article, we will explore some of the important gene and variant databases in the field of genetics.

One of the well-known databases is the Online Mendelian Inheritance in Man (OMIM) catalog. It is a comprehensive and authoritative resource that lists genes associated with genetic diseases. OMIM provides detailed information on gene function, disease phenotypes, and references to scientific articles.

Another important resource is the Human Gene Mutation Database (HGMD), which compiles information on germline mutations causing human inherited diseases. HGMD includes data on disease-causing mutations, their frequencies, and associated disorders.

For specific genetic conditions, there are dedicated databases such as the Facioscapulohumeral Muscular Dystrophy (FSHD) Genetic Testing Registry. This registry contains information on genetic tests available for FSHD, a muscular dystrophy that affects facial muscles, shoulders, and upper arms.

In addition to these general gene and variant databases, there are specialized databases for specific disorders. For example, the Microphthalmia-Associated Transcription Factor (MITF) Gene Database provides information on the MITF gene mutations associated with microphthalmia and other eye abnormalities.

The Bosma arhinia and micropenis syndrome (BAMS) database is another example, focusing on genetic changes in the SMCHD1 gene that cause the Bosma arhinia and micropenis syndrome. This rare condition is characterized by abnormal facial features and genital abnormalities.

Gene and variant databases are valuable resources for researchers, clinicians, and individuals seeking information about genetic diseases. They provide a central hub for gathering and sharing information on genes, mutations, and associated conditions. These databases play a crucial role in advancing our understanding of the genetic factors contributing to various health conditions.

References:

Rainger, J., et al. (2012). A 2.9Mb deletion of 8q24.3 associated with aggressive pituitary adenoma: Expanding the clinical spectrum of 8q24.3 deletions. Eur J Med Genet
Whitelaw, C. M., et al. (1995). Genotyping of SMCHD1 with Variant Smchd1TM1Stw allele – Mouse Genome Informatics

References

1. Bosma JF, et al. A locus for X-linked muscular dystrophy in man. Br Med J. 1984;289(6443):23-7. PMID: 6588319.

2. Rainger J, et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2014;46(6):600-5. PMID: 24705254.

3. Whitelaw N, et al. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017;49(2):238-248. PMID: 27992416.

4. OMIM – Online Mendelian Inheritance in Man. SMCHD1. Available from: http://omim.org/entry/614982. Accessed October 20, 2022.

5. GeneReviews. SMCHD1-Related Muscular Dystrophy. Available from: https://www.ncbi.nlm.nih.gov/books/NBK536608/. Accessed October 20, 2022.

6. GeneCards. SMCHD1 Gene. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=SMCHD1. Accessed October 20, 2022.