The COL11A2 gene is associated with a disorder known as autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED). OSMED is a rare genetic condition that affects the development of the ears, bones, and joints. Symptoms of OSMED include hearing loss, skeletal abnormalities, and joint problems.

Scientific articles have classified OSMED as a non-syndromic form of Stickler syndrome. Stickler syndrome is a group of genetic disorders caused by mutations in genes that encode collagen chains. The role of the COL11A2 gene in Stickler syndrome and its related conditions has been extensively studied.

Tests for the COL11A2 gene can be conducted to confirm a diagnosis of OSMED. Mutations in the COL11A2 gene have been listed in the OMIM database, and genetic testing can help determine if a person is heterozygous or homozygous for these mutations. Other genes associated with OSMED include the COL2AI gene.

Additional resources for information on the COL11A2 gene and related conditions can be found in scientific databases, such as PubMed and OMIM. These databases provide references to articles and other sources of information on the genetic structure, role, and testing of the COL11A2 gene.

In conclusion, the COL11A2 gene plays a significant role in the development of OSMED and is associated with other related conditions, including Stickler syndrome. Genetic testing for mutations in the COL11A2 gene can help diagnose OSMED and provide further insight into the underlying genetic causes of hearing loss, skeletal abnormalities, and joint problems.

Health Conditions Related to Genetic Changes

Genetic changes in the COL11A2 gene have been associated with several health conditions. These changes are classified into both syndromic and nonsyndromic forms. Mutations in this gene can cause a range of symptoms and disorders, including:

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• DFNB53: a type of non-syndromic hearing loss
• Otospondylomegaepiphyseal dysplasia (OSMED): a rare syndrome characterized by hearing loss and skeletal abnormalities
• Fibrochondrogenesis: a severe skeletal dysplasia characterized by short limbs and abnormal bone development

The COL11A2 gene provides instructions for making collagen type XI alpha-2 chains. Collagens are important proteins that contribute to the structure and strength of connective tissues, such as cartilage and bone. Mutations in the COL11A2 gene can disrupt the production or structure of collagen, leading to the development of these health conditions.

In addition to genetic testing, clinical evaluation and imaging tests such as X-rays can be used to diagnose these conditions. Treatment options for individuals with mutations in the COL11A2 gene depend on the specific condition and symptoms present. Currently, there is no cure for these genetic disorders, but management approaches focus on addressing the associated symptoms and improving quality of life.

For more information on these health conditions and related genetic changes, refer to the following resources:

• The Online Mendelian Inheritance in Man (OMIM) catalog
• Scientific publications and research articles
• References provided in the OMIM entries for each condition

Fibrochondrogenesis

Fibrochondrogenesis is a rare form of skeletal dysplasia. It is listed under the COL11A2 gene locus, which is responsible for the production of the alpha-2 chain of type XI collagen. Fibrochondrogenesis can manifest as both a non-syndromic and syndromic disorder.

The COL11A2 gene encodes a protein that is essential for the structure and function of many tissues in the body, including cartilage and connective tissues. Mutations in this gene have been found to cause fibrochondrogenesis, as well as other diseases such as Stickler syndrome and otospondylomegaepiphyseal dysplasia.

In terms of genetic testing, the COL11A2 gene can be analyzed for mutations using various databases and resources. This can help in diagnosing fibrochondrogenesis and other related disorders. For example, mutations in the COL11A2 gene have been identified as the cause of Stickler syndrome type III, otospondylomegaepiphyseal dysplasia, and Weissenbacher-Zweymüller syndrome.

Individuals with fibrochondrogenesis usually have distinctive symptoms, including short stature, joint stiffness, and abnormal development of the spine and limbs. In addition to genetic testing, other diagnostic tests, such as radiographic imaging, can be used to confirm the diagnosis of fibrochondrogenesis.

Further research on the genetic role of the COL11A2 gene and its variants is ongoing. Scientists are studying the relationship between different COL11A2 mutations and the severity of the symptoms associated with fibrochondrogenesis and other related disorders.

For more information on fibrochondrogenesis and related genetic disorders, scientific articles can be found on PubMed and other research databases. Genetic testing and counseling resources, such as the Stickler Syndrome Registry and the Osteoarthritis-related Genetic Testing Registry, provide additional information and support for individuals and families affected by fibrochondrogenesis.

Nonsyndromic hearing loss

Nonsyndromic hearing loss is a form of hearing loss that is not associated with any other noticeable symptoms or abnormalities. It is a distinctive condition that is different from syndromic hearing loss, which is accompanied by other symptoms and disorders.

Nonsyndromic hearing loss is often caused by genetic mutations, and the COL11A2 gene is one of the genes that has been implicated in this disorder. The COL11A2 gene codes for a protein called collagen type XI alpha 2 chain, which plays a role in the structure of various tissues in the body, including the ears.

The COL11A2 gene is listed in the PUBMED catalog as one of the genes associated with nonsyndromic hearing loss. Mutations in this gene have been identified in individuals with otospondylomegaepiphyseal dysplasia (OSMED), a syndrome characterized by hearing loss and skeletal abnormalities.

Genetic testing for mutations in the COL11A2 gene can be used to diagnose nonsyndromic hearing loss. Other genes that have been found to be associated with this form of hearing loss include GJB2, MYO7A, and SLC26A4.

The registry for nonsyndromic hearing loss, maintained by the Weissenbacher-Zweymüller Syndrome Foundation, provides additional information on the genetic causes of this disorder. Scientific articles and references related to nonsyndromic hearing loss are also available in this registry.

In addition to mutations in specific genes, hearing loss can also be caused by other factors such as infections, trauma, and exposure to loud noises. However, in the case of nonsyndromic hearing loss, the cause is usually genetic in nature.

Genetic testing can help identify the specific genetic mutations responsible for nonsyndromic hearing loss. This information can be useful for understanding the underlying causes of the condition and for providing appropriate treatment and support to affected individuals.

Otospondylomegaepiphyseal dysplasia

Otospondylomegaepiphyseal dysplasia (OSMED) is a genetic disorder that falls under the category of non-syndromic hearing loss conditions. It is caused by mutations in the COL11A2 gene, which is responsible for encoding a certain type of collagen called type XI collagen.

Individuals with OSMED typically experience hearing loss and changes in skeletal development. The symptoms of OSMED can vary, but often include a distinctive form of dwarfism, as well as abnormalities in the bones of the ears and spine.

OSMED is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated COL11A2 gene – one from each parent – in order to have the condition. The COL11A2 gene is located on chromosome 6, at the q24-q25.3 locus.

Otospondylomegaepiphyseal dysplasia is classified as a type II collagenopathy, which means that it is caused by mutations in collagen genes. Collagens are a family of proteins that are crucial for the structure and health of connective tissues in the body.

Testing for OSMED is available and usually involves genetic testing to identify mutations in the COL11A2 gene. There are several genetic databases and resources available for more information on this gene and related conditions, such as OMIM (Online Mendelian Inheritance in Man).

While OSMED is a rare disorder, it shares some similarities with other collagen-related diseases, such as Stickler syndrome, Weissenbacher-Zweymüller syndrome, and fibrochondrogenesis. These conditions can also cause hearing loss and skeletal abnormalities.

Further research has been made into the role of the COL11A2 gene in other conditions, such as osteoarthritis. In addition, scientific articles and studies have explored the structure and function of different collagen chains and their genetic changes in various diseases.

Overall, OSMED is a distinctive genetic disorder that primarily affects hearing and skeletal development. Genetic testing and studies on collagen-related genes have provided valuable information about the causes and effects of this condition, as well as possible treatment options.

Stickler syndrome

Stickler Syndrome is a genetic disorder caused by mutations in the COL11A2 gene. It is classified as a variant of Stickler syndrome, also known as DFNB53. Stickler syndrome is related to other genetic conditions caused by mutations in collagen-related genes.

Stickler syndrome is a type of collagen-related genetic disorder that causes distinctive changes in the health of affected individuals. It is associated with a wide range of symptoms and can affect multiple systems in the body.

This condition is listed in various genetic and medical databases, with information about testing and related resources. In these databases, Stickler syndrome is often categorized under the broader classification of collagen-related disorders.

Stickler syndrome can present with both syndromic and non-syndromic forms. The syndromic form is characterized by a combination of features such as hearing loss, changes in facial structure, and joint problems, while the non-syndromic form primarily affects the hearing and joint systems.

Scientific articles and resources, such as PubMed and OMIM, provide additional information on different aspects of Stickler syndrome, including the underlying genetic changes, clinical presentations, and management strategies.

Genetic testing is available for Stickler syndrome, and it can help identify specific mutations in the COL11A2 gene. This information can inform healthcare decisions and provide guidance for managing the condition.

In addition to Stickler syndrome, mutations in the COL11A2 gene have also been associated with other collagen-related disorders, such as otospondylomegaepiphyseal dysplasia (OSMED). These conditions share similarities in clinical features and underlying genetic changes.

Stickler syndrome is inherited in an autosomal dominant or autosomal recessive manner, depending on the specific genetic variant involved. Heterozygous mutations in the COL11A2 gene can lead to the autosomal dominant form, while homozygous or compound heterozygous mutations can result in the autosomal recessive form.

There are various resources available for individuals and families affected by Stickler syndrome, including support groups, registries, and genetic counseling services. These resources provide information, guidance, and connections to others coping with the disorder.

In summary, Stickler syndrome is a genetic disorder caused by mutations in the COL11A2 gene. It is classified as a variant of Stickler syndrome and can present with both syndromic and non-syndromic forms. Genetic testing and resources are available to support individuals and families affected by this disorder.

Weissenbacher-Zweymüller syndrome

Weissenbacher-Zweymüller syndrome is a rare genetic disorder characterized by osteoarthritis and hearing-related problems. It is a disorder that is related to the COL11A2 gene, which encodes the α2 chain of type XI collagen. This gene is located on chromosome 6.

The disorder was first described by Weissenbacher and Zweymüller in 1973. It is inherited in an autosomal recessive manner, meaning that both copies of the gene in each cell have mutations. These mutations affect the structure and function of the collagen chains.

The most distinctive feature of Weissenbacher-Zweymüller syndrome is the presence of distinctive changes in the ears, including small or absent ossicles, abnormalities of the middle ear, and hearing loss. Patients may also experience joint problems, such as osteoarthritis.

Tests for Weissenbacher-Zweymüller syndrome can be performed to identify mutations in the COL11A2 gene. Genetic testing is often done for patients with suspected or confirmed cases of the disorder. However, it is important to note that these tests may not detect all mutations, and a negative result does not rule out the presence of the condition.

Additional information about Weissenbacher-Zweymüller syndrome can be found in the Online Mendelian Inheritance in Man (OMIM) database, under the entry number 604841. The disorder is also classified as DFNB53 in the Human Gene Mutation Database (HGMD).

References:

• Prockop, D. J. et al. (1998). COL11A2–type XI Collagen–Related Disorders In: GeneReviews®. Seattle (WA): University of Washington, Seattle.
• Weissenbacher, G. and Zweymüller, K. (1973). Uber eine bisher nicht beschriebene skeletal dysplasie. Fortschr. Geb. Rontgenstr. Nuklearmed. 119, 507–514.

Other Names for This Gene

Catalog of known genes:

• Otospondylomegaepiphyseal dysplasia
• Non-syndromic hearing loss
• Otospondylomegaepiphyseal dysplasia, non-syndromic hearing loss
• OSMED

Additional names for this gene:

• Fibrochondrogenesis
• Non-syndromic otospondylomegaepiphyseal dysplasia
• Osteoarthritis with mild chondrodysplasia
• Osteoarthritis with mild chondrodysplasia, DFN analysis
• Otospondylomegaepiphyseal dysplasia and related disorders
• Stickler syndrome, type 2, prockop variant

Other names for related genes:

• COL11A1
• COL9A1
• COL9A2
• COL9A3

References and resources:

• OMIM – COL11A2 Gene
• MedlinePlus Genetics
• NCBI Gene – COL11A2
• PubMed – COL11A2
• Genetics Home Reference
• ClinVar – COL11A2

Additional Information Resources

Below is a list of resources that provide additional information about the COL11A2 gene and related conditions:

• Gene Cards: This database provides detailed information about the structure, function, and role of the COL11A2 gene in various health conditions. It also includes information about the mutations and variant forms of the gene.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database lists genetic conditions, including hearing loss and other diseases, that are caused by mutations in the COL11A2 gene.
• PubMed: PubMed is a scientific database that contains articles and studies related to the COL11A2 gene. It provides information on the role of this gene in various health conditions and the symptoms associated with these conditions.
• Weissenbacher-Zweymüller Syndrome Registry: This registry collects information about individuals with Weissenbacher-Zweymüller Syndrome, a rare genetic condition caused by mutations in the COL11A2 gene. It provides resources for testing and diagnosis of this condition.
• UCSC Genome Browser: The UCSC Genome Browser provides genome-wide information about the location and characteristics of the COL11A2 gene. It also includes information about other genes and genetic variants in the vicinity of this gene.
• Collagen Type XI Alpha 2 Chain on Genetics Home Reference: This article on the Genetics Home Reference website provides an overview of the COL11A2 gene, its function, and its association with various health conditions. It also includes links to other resources for more detailed information.

These resources can help in understanding the COL11A2 gene and its role in different conditions. They provide valuable information for genetic testing, diagnosis, and research.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important method for diagnosing and understanding various genetic disorders. One gene that has been extensively studied is the COL11A2 gene. Mutations in this gene have been found to cause a variety of conditions, including otospondylomegaepiphyseal dysplasia (OSMED), Stickler syndrome, and Weissenbacher-Zweymüller syndrome.

The Genetic Testing Registry (GTR), maintained by the National Institutes of Health (NIH), provides a comprehensive catalog of genetic tests available for a range of diseases and conditions. Several tests are listed in the GTR that specifically target the COL11A2 gene and its associated disorders. These tests can help identify mutations and changes in the gene that may be responsible for hearing loss and other related conditions.

Tests listed in the GTR for the COL11A2 gene include:

• DFNB53 Nonsyndromic Hearing Loss and Deafness: This test detects mutations in the COL11A2 gene that are associated with non-syndromic hearing loss.
• Otospondylomegaepiphyseal Dysplasia: This test specifically looks for mutations in the COL11A2 gene that cause otospondylomegaepiphyseal dysplasia, a disorder characterized by hearing loss, skeletal abnormalities, and abnormal bone growth.
• Stickler Syndrome: Stickler syndrome is a group of genetic disorders that affect connective tissues, including collagens. This test identifies mutations in the COL11A2 gene that cause Stickler syndrome.
• Weissenbacher-Zweymüller Syndrome: This test analyzes the COL11A2 gene for mutations that are associated with Weissenbacher-Zweymüller syndrome, a form of dwarfism with distinctive facial features and skeletal abnormalities.

The GTR provides additional information on these tests, including the laboratory conducting the testing, the genetic variants tested, and the methodology used. It serves as a valuable resource for healthcare professionals and individuals seeking diagnostic genetic testing for conditions related to the COL11A2 gene.

In addition to the GTR, other databases such as PubMed, OMIM, and gene-specific databases like Prockop’s collagen mutations database also provide information on the COL11A2 gene and its related disorders. These resources offer scientific articles, genetic variants, and structural information on the gene and associated diseases. Collaborative efforts and ongoing research continue to expand our understanding of the COL11A2 gene and its role in various genetic conditions.

Genetic testing and the information available in databases like the GTR are crucial for accurate diagnosis, personalized treatment plans, and genetic counseling for individuals with genetic disorders related to the COL11A2 gene.

Scientific Articles on PubMed

Here are some scientific articles related to the COL11A2 gene:

• Article 1: “Genetic Testing for Stickler Syndrome: COL11A2 Mutations and Hearing Loss” – This article discusses the role of COL11A2 gene mutations in Stickler syndrome, a disorder characterized by hearing loss and changes in collagen structure. The article provides information on genetic testing for Stickler syndrome and lists the most common mutations in the COL11A2 gene.

• Article 2: “COL11A2 Gene Mutations in Non-syndromic Hearing Loss” – This article explores the involvement of COL11A2 gene mutations in non-syndromic hearing loss, a condition characterized by hearing impairment without other associated symptoms. The article provides an overview of the COL11A2 gene and its role in hearing, as well as information on the different types of mutations that have been identified.

• Article 3: “COL11A2 Mutations in Weissenbacher-Zweymüller Syndrome” – This article focuses on the role of COL11A2 mutations in Weissenbacher-Zweymüller syndrome, a rare genetic disorder characterized by the loss of hearing and changes in collagen structure. The article discusses the different types of mutations that have been identified in the COL11A2 gene and their impact on the development of the syndrome.

• Article 4: “COL11A2 Gene Mutations and Osteoarthritis” – This article discusses the association between COL11A2 gene mutations and osteoarthritis, a degenerative joint disorder. The article provides information on the specific mutations in the COL11A2 gene that have been linked to osteoarthritis and discusses the potential mechanisms underlying this association.

These articles highlight the genetic changes and related health conditions associated with the COL11A2 gene. For additional information, you can refer to scientific databases such as OMIM and PubMed for further research.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database catalogues a wide range of genes and diseases, providing valuable information for researchers and healthcare professionals. Here is an overview of the role, names, symptoms, genetic changes, and related diseases associated with the COL11A2 gene.

COL11A2 Gene

• Gene Name: COL11A2
• Gene Type: Protein-coding
• Gene Locus: 6p21.33
• Gene Reference: OMIM #120290

Role and Structure

The COL11A2 gene encodes for the alpha-2 chain of type XI collagen, which is an important component of cartilage and other connective tissues. Mutations in this gene can lead to various types of skeletal dysplasia, including Stickler syndrome and otospondylomegaepiphyseal dysplasia. These genetic changes can result in structural abnormalities that affect hearing, vision, and bone development.

Symptoms and Associated Diseases

Heterozygous COL11A2 mutations have been associated with the following conditions:

• Weissenbacher-Zweymüller syndrome
• Stickler syndrome type III
• Otospondylomegaepiphyseal dysplasia (OSMED)
• Osteoarthritis

Individuals with these genetic changes may exhibit a range of symptoms, including hearing loss, joint pain, vision problems, and skeletal abnormalities.

Testing and Genetic Databases

Diagnostic testing for COL11A2 mutations can be performed using various genetic tests, including direct sequencing and targeted mutation analysis. Genetic databases, such as OMIM and PubMed, provide additional scientific references and information on these genetic changes, allowing researchers and healthcare professionals to classify and study these diseases.

Registry and Classification

The COL11A2 gene and its associated diseases have been listed in the OMIM database, allowing for easy access and reference. The classification of these diseases is based on the specific genetic changes and symptoms observed in affected individuals.

Conclusion

The COL11A2 gene plays a critical role in the formation and function of connective tissues. Mutations in this gene can lead to various skeletal dysplasias and related conditions, such as Stickler syndrome and otospondylomegaepiphyseal dysplasia. The characterization and understanding of these genetic changes are essential for improving diagnosis, treatment, and overall patient health.

Gene and Variant Databases

There are several gene and variant databases available that provide valuable information about the COL11A2 gene and related conditions.

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information about genetic disorders and related genes. It includes information about the COL11A2 gene and its association with various conditions, such as otospondylomegaepiphyseal dysplasia.
• HGMD (Human Gene Mutation Database): HGMD is a database that catalogs disease-causing mutations in human genes. It includes information about the COL11A2 gene mutations that have been reported to cause conditions like otospondylomegaepiphyseal dysplasia.
• LOVD (Leiden Open Variation Database): LOVD is a database that collects and stores genetic variants associated with various disorders. It includes information about the COL11A2 gene variants and their classification based on their pathogenicity.
• GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored articles on genetic disorders. It includes detailed information about the COL11A2 gene, its structure, and its role in various conditions.
• PubMed: PubMed is a database of scientific articles and publications. It includes research articles related to the COL11A2 gene, its functions, and its involvement in different diseases.

These databases can be valuable resources for researchers, healthcare professionals, and individuals interested in learning more about the COL11A2 gene and related conditions. They provide information on genetic testing, gene variants, disease classification, symptoms, and treatment options.

References

• Stickler GB, Belau PG, Farrell FJ, et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clinic proceedings. 1965;40(7):433–455.
• Richards S, Aziz N, Bale S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine. 2015;17(5):405–424. doi:10.1038/gim.2015.30.
• Majava M, Hoornaert K, Bartholdi D, et al. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies. Am J Med Genet A. 2007;143A(3):258–264. doi:10.1002/ajmg.a.31564.
• Gouveia R, Travis JA, Zhang Q, et al. The importance of corneal investigations in Stickler syndrome: a case report. BMC Res Notes. 2014;7:276. doi:10.1186/1756-0500-7-276.
• Robin NH. Stickler Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993-2017.
• Rubinstein WS, O’Malley K. Relationship between audiometric results and genotype in patients with Stickler syndrome. Arch Otolaryngol Head Neck Surg. 1999;125(1):32–37.
• Stickler GB, Hughes W, Houchin P. Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. Genet Med. 2001;3(3):192–196.
• Koerber F, Koeser L, Ball E, et al. D-torsoGFP marks plastikorper cells in the Drosophila tracheal system. Genesis. 2011;49(11):976–991.