FKBP10 gene – Austra Health

The FKBP10 gene, also known as the FKBP65 gene, is located on chromosome 17. It is involved in a genetic condition called osteogenesis imperfecta (OI), which leads to brittle bones and other deformities.

FKBP10 is a member of the FK506-binding protein family and acts as a peptidyl-prolyl isomerase, facilitating protein folding and assembly. Mutations in the FKBP10 gene can lead to a recessive form of OI, known as OI type XI.

This genetic condition affects the formation of collagen, a crucial component of bones and other connective tissues. Individuals with OI type XI may experience skeletal abnormalities, such as short stature, bowed legs, and joint deformities in the elbows and knees.

Genetic testing can help to detect mutations in the FKBP10 gene and confirm a diagnosis of OI type XI. The Online Mendelian Inheritance in Man (OMIM) catalog provides additional information on the FKBP10 gene and its association with OI and other genetic disorders. Other scientific articles and databases, such as PubMed, also offer references and resources related to this gene and the conditions it can lead to.

Health Conditions Related to Genetic Changes

Genetic changes in the FKBP10 gene can lead to various health conditions and disorders. One such condition is called osteogenesis imperfecta (OI), which is a group of genetic disorders that affect the formation of bones and other connective tissues. OI can cause brittle bones, skeletal deformities, and other health issues.

Changes in the FKBP10 gene can also be associated with a syndrome called Kuskokwim syndrome. This syndrome is characterized by multiple joint contractures, skeletal abnormalities, and other physical and developmental features.

There may be other health conditions and disorders related to genetic changes in the FKBP10 gene that are not yet fully understood or documented. Scientific research and genetic testing are ongoing to better understand the role of this gene in overall health and the development of various conditions.

If you suspect you or a loved one may have a genetic condition related to changes in the FKBP10 gene, it is recommended to consult with a healthcare professional and undergo genetic testing. These tests can provide valuable information and help guide medical management and treatment decisions.

Several resources and databases are available to gather more information about health conditions related to genetic changes in the FKBP10 gene. The Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other scientific publications can provide additional references and research on the subject.

Additionally, there are genetic registries and databases that collect and provide information about individuals with certain genetic changes or conditions. These resources can be valuable for connecting with other individuals and families affected by similar conditions and for accessing additional support and resources.

It is important to note that the information provided here is not exhaustive and is intended for informational purposes only. Always consult with healthcare professionals and genetic counselors for personalized and accurate information regarding genetic conditions.

Kuskokwim syndrome

Kuskokwim syndrome is a rare genetic disorder that affects the FKBP10 gene. This gene provides instructions for making a protein called FKBP65, which is an isomerase that helps with the formation of strong collagen molecules in the body. Collagen is an important protein found in connective tissues, including the skin, bones, tendons, and ligaments.

Individuals with Kuskokwim syndrome have mutations in the FKBP10 gene, which lead to changes in the structure or function of the FKBP65 protein. These changes impair the formation of collagen molecules, resulting in various health conditions and disorders.

One of the main features of Kuskokwim syndrome is osteogenesis imperfecta, also known as brittle bone disease. This condition causes bones to be fragile and prone to fractures. People with Kuskokwim syndrome may also have joint deformities, such as bent or rotated elbows.

The signs and symptoms of Kuskokwim syndrome can vary widely from person to person. Additional features can include short stature, hearing loss, and dental problems. Some individuals may also have issues with their skin, such as easy bruising or stretchy skin.

Diagnosing Kuskokwim syndrome usually involves genetic testing to identify mutations in the FKBP10 gene. Several databases and resources, such as the OMIM catalog and PubMed articles, provide information and references on this condition and related genetic changes. A registry for FKBP10 gene mutations provides a centralized place for individuals and healthcare professionals to access information and connect with others affected by this condition.

Treatment for Kuskokwim syndrome is focused on managing the symptoms and associated health conditions. This may involve physical therapy to improve muscle strength and joint mobility, dental care, hearing aids, and fracture prevention measures. Genetic counseling may be recommended for individuals and families affected by Kuskokwim syndrome to understand the inheritance pattern and reproductive options.

Osteogenesis imperfecta

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a genetic disorder that affects the formation of bones and results in weak and brittle bones that are prone to fractures. It is caused by mutations in the FKBP10 gene, which encodes for a protein called peptidyl-prolyl cis-trans isomerase FKBP10.

Individuals with OI may experience multiple fractures throughout their lifetime, even with minimal trauma. This condition is characterized by bone deformities, such as bowing of the long bones, a short stature, and skeletal abnormalities. Other symptoms may include blue sclera, hearing loss, brittle teeth, and joint hypermobility.

OI is inherited in an autosomal recessive manner, which means that both parents must carry a mutated copy of the gene in order for their child to be affected. The severity of the condition can vary greatly, ranging from mild to severe, and can even be life-threatening in some cases.

There are currently no cures for OI, but treatment options focus on managing the symptoms and improving the quality of life for individuals with the condition. This may include physical therapy, assistive devices, medications to strengthen the bones, and surgery to correct severe deformities.

For additional information on OI, the following resources may be helpful:

Osteogenesis Imperfecta Foundation (www.oif.org)
NIH Genetics Home Reference (ghr.nlm.nih.gov)
OMIM (Online Mendelian Inheritance in Man) database
PubMed (www.ncbi.nlm.nih.gov/pubmed) – search for scientific articles on OI

These resources provide a wealth of information on the genetic basis, symptoms, diagnosis, and management of OI. They also provide links to additional databases and research articles that may be of interest.

Other disorders

In addition to the FKBP10 gene mutation associated with osteogenesis imperfecta, variations in the gene’s sequence have been linked to several other conditions. These variants can lead to different health problems and deformities in affected individuals.

One of the related conditions is called the Kuskokwim syndrome, which is also known as FKBP10-related osteogenesis imperfecta. This syndrome is characterized by multiple fractures and bone deformities, similar to those seen in osteogenesis imperfecta, but with additional changes in other tissues of the body.

Another disorder associated with variations in the FKBP10 gene is the recessive genetic condition called the FKBP65 syndrome. This condition affects the formation of collagen molecules, leading to skeletal deformities, joint dislocations, and other health complications.

To determine if an individual has any of these conditions, genetic tests can be performed. These tests look for changes in the FKBP10 gene sequence that may be associated with these disorders. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the FKBP10 gene and related conditions, including references to scientific articles and resources for further information.

The FKBP10 gene is also listed in genetic databases such as PubMed, which can be used to find additional scientific articles and references related to this gene and its associated disorders.

Other Names for This Gene

The FKBP10 gene, also known as FKBP65, is a recessive gene that provides instructions for making the FKBP65 protein. This protein is a peptidyl-prolyl cis-trans isomerase that plays a role in the formation and stability of collagen molecules in various tissues.

Other names for this gene include:

Kuskokwim syndrome
Eyre loss-of-function
Recessive osteogenesis imperfecta
Central tendon laxity

Changes (mutations) in the FKBP10 gene can lead to various genetic conditions. These conditions include osteogenesis imperfecta, a condition characterized by brittle bones that are prone to fractures, and other related disorders with skeletal abnormalities and joint deformities.

Scientific articles and references listed in databases such as OMIM, PubMed, and genetic testing resources provide additional information on the role of this gene in these conditions. However, the specific impact of each variant or mutation in this gene on an individual’s health and condition is still unclear.

Genetic testing and information from reputable sources, such as the Online Mendelian Inheritance in Man (OMIM) database and the Genetic and Rare Diseases Information Center (GARD), can help individuals to better understand the possible effects of changes in this gene.

References and Resources for Further Information:
Resource	Description
OMIM	An online catalog of human genes and genetic disorders
PubMed	A database of scientific articles
Genetic and Rare Diseases Information Center (GARD)	An information and resource center for genetic conditions

Additional Information Resources

Here is a list of additional resources for individuals interested in learning more about the FKBP10 gene:

PubMed: Pubmed is a central database of scientific articles and publications. Searching for “FKBP10 gene” in Pubmed can provide more information on the genetic changes, diseases, and conditions associated with this gene.
Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests available for the FKBP10 gene. It also lists the names of labs that offer these tests.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic conditions. The OMIM entry for the FKBP10 gene provides information on the genetic changes, diseases, and conditions associated with this gene.
Other Resources: There may be other resources available specific to certain genetic conditions related to the FKBP10 gene, such as Central Osteogenesis Imperfecta. These resources may include support groups, research articles, and additional information on related genes and molecules.
Kuskokwim Elbows Registry: The Kuskokwim Elbows Registry is a database that collects and maintains information on individuals with the FKBP10 gene variant. It provides a platform for researchers and healthcare professionals to study and learn more about this condition.

Tests Listed in the Genetic Testing Registry

The FKBP10 gene, also known as FKBP65, encodes for a peptidyl-prolyl isomerase. Mutations in this gene have been identified in individuals with a condition called osteogenesis imperfecta (OI), a group of genetic disorders characterized by brittle bones and skeletal deformities. The FKBP10 gene is associated with a recessive form of OI, known as OI type XI.

The Genetic Testing Registry (GTR) provides a central catalog of genetic tests for various conditions and diseases. For the FKBP10 gene, GTR lists the following tests:

FKBP10 Gene Sequencing
FKBP10 Gene Deletion/Duplication Analysis

These tests detect changes in the FKBP10 gene that are associated with OI type XI. By analyzing the DNA sequence or detecting deletions/duplications in the gene, these tests can help confirm a diagnosis of OI and provide additional information on the specific variant present in an individual.

The GTR database includes references to scientific articles and databases such as OMIM, PubMed, and other resources related to the FKBP10 gene and OI. This information can lead to a better understanding of the genetic basis of OI and provide resources for further research and clinical management of individuals with this condition.

It is important to note that the FKBP10 gene is just one of many genes associated with OI and related disorders. Other genes, such as COL1A1 and COL1A2, are also involved in the formation of collagen molecules, which play a crucial role in bone formation. Genetic tests targeting these genes may be recommended depending on the specific clinical presentation and family history of an individual.

The GTR database is a valuable resource for healthcare professionals and researchers, offering information on genetic tests available for various genetic disorders. Testing for the FKBP10 gene and other related genes can help in the diagnosis and management of OI and similar conditions, leading to improved health outcomes for affected individuals.

Scientific Articles on PubMed

The FKBP10 gene, also known as the FKBP65 gene, is involved in the formation of connective tissues in individuals. Mutations in this gene can lead to various genetic disorders, including osteogenesis imperfecta and the Kuskokwim syndrome.

Scientific articles on PubMed provide valuable information on the FKBP10 gene and its role in these conditions. PubMed is a central resource for accessing scientific literature in the field of health and genetics.

Variant databases and other resources listed in these articles can help researchers and healthcare professionals understand the genetic changes associated with FKBP10 gene mutations. These databases can provide references to additional articles, testing protocols, and information on related conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for researchers, clinicians, and individuals interested in understanding human genetic disorders and their underlying genetic causes. Here we focus on the FKBP10 gene and related diseases.

The FKBP10 gene, also called peptidyl-prolyl cis-trans isomerase B (PPIB), is associated with various genetic conditions, including osteogenesis imperfecta (OI) and Bruck syndrome. Osteogenesis imperfecta is a group of genetic disorders characterized by bone fragility and is commonly known as “brittle bone disease.” Bruck syndrome is a rare autosomal recessive disorder that leads to joint deformities and fragile bones.

Genetic testing can help diagnose these conditions. Individuals with mutations in the FKBP10 gene may have changes in the structure and function of collagen, a protein critical for bone formation and other connective tissues.

The FKBP10 gene is also known as FKBP65, and mutations in this gene can lead to abnormal collagen formation. While the exact role of FKBP10 in collagen formation is still unclear, research suggests that it may play a role in stabilizing collagen molecules during their folding process.

For individuals with suspected FKBP10-related conditions, genetic testing is available to confirm the diagnosis. Testing may involve sequencing the FKBP10 gene or using other genetic testing techniques to identify variants or changes in the gene associated with the condition.

The OMIM database provides additional information on the FKBP10 gene and other related genes and diseases. The database includes scientific articles, references, and resources related to these conditions. It also lists variant names, testing information, and information on the health and registry for individuals with these conditions.

Researchers and clinicians can use the OMIM database as a central resource to access relevant information on FKBP10-related disorders. The database provides essential information for understanding the genetic basis of these conditions, including the underlying genetic changes and associated clinical features.

In summary, the FKBP10 gene is associated with various genetic conditions, including osteogenesis imperfecta and Bruck syndrome. The OMIM database offers a comprehensive catalog of genes and diseases, providing valuable information on the FKBP10 gene and other related genes. It is a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of these conditions and accessing relevant information and resources.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals studying the FKBP10 gene and related conditions. These databases catalog changes and mutations in the FKBP10 gene, as well as other genes associated with conditions such as osteogenesis imperfecta and Eyre syndrome.

One important database is OMIM (Online Mendelian Inheritance in Man), which provides detailed information on the genetic basis of human health and disease. OMIM includes information on the FKBP10 gene and its associated disorders, as well as references to scientific articles and other resources.

Another database, called the FKBP10 Registry, collects information from individuals with FKBP10 mutations. This registry helps researchers and healthcare professionals understand the range of symptoms and genetic changes associated with FKBP10-related conditions.

In addition to these central databases, there are other resources that provide information on the FKBP10 gene and related conditions. PubMed, for example, is a scientific database that allows researchers to search for articles and studies on FKBP10 and its role in connective tissue formation, bone health, and other processes.

Genetic testing is an important tool for diagnosing FKBP10-related conditions. Through these tests, healthcare providers can identify mutations in the FKBP10 gene and other related genes. This information can help guide treatment decisions and provide individuals and families with a clearer understanding of their condition and potential health outcomes.

Peptidyl-prolyl cis-trans isomerase, also known as FKBP65, is the protein encoded by the FKBP10 gene. This protein plays a role in the formation and stability of collagen, a key component of connective tissues in the body. Mutations in the FKBP10 gene can lead to structural abnormalities in collagen and result in conditions such as osteogenesis imperfecta and Eyre syndrome.

Overall, gene and variant databases are essential resources for researchers, healthcare professionals, and individuals affected by FKBP10-related conditions. By providing comprehensive information on genetic changes, associated disorders, and testing options, these databases contribute to the understanding and management of these conditions.

References

Conditions and Diseases: Osteogenesis Imperfecta Type IX – OMIM
The Lead: A Scientific Research Publication – PubMed
Elbows and Other Joint Deformities in Kuskokwim Syndrome – PubMed
Additional Genetic Testing for FKBP10 Gene Mutation – Genetic Testing Registry
Articles on FKBP10 Gene and Related Disorders – PubMed
Gene Reviews: FKBP10-Related Osteogenesis Imperfecta – NCBI
FKBP10 Gene: Information and Resources – Genetics Home Reference
Fkbp65 Mutant Mice: A Central Role for the Peptidyl-Prolyl Isomerase in Connective Tissue Formation – PubMed Central
FKBP10 Variant Associated with Osteogenesis Imperfecta – PubMed Central