The FLNB gene, also known as the Filamin B gene, is responsible for producing a protein that plays a crucial role in the development and maintenance of various tissues in the human body. Mutations in this gene can lead to a range of disorders and diseases, including skeletal dysplasia and spondylocarpotarsal synostosis syndrome.

FLNB-related disorders are usually characterized by impairing changes in the structure and function of bones and other connective tissues. One of the most well-known disorders associated with the FLNB gene is atelosteogenesis, a severe skeletal dysplasia. This disorder results in impaired bone formation, leading to a variety of physical abnormalities, such as limb shortening and joint dislocations.

Testing for variations in the FLNB gene can be done through genetic testing, which can help diagnose and classify specific disorders related to this gene. Variants in the FLNB gene are listed in various genetic databases, such as OMIM and PubMed, which provide additional information about the gene and related disorders.

The FLNB gene contains 48 exons and spans nearly 290 kilobases in the human genome, making it one of the larger genes in the genome. The protein produced by this gene, filamin B, helps to regulate the structure and function of chondrocytes, the cells responsible for cartilage development and maintenance.

According to a study by Bonafe et al. (2003), mutations in the FLNB gene can result in abnormal ossification and bone development, leading to various skeletal dysplasias. These findings were based on the analysis of mutations found in individuals with atelosteogenesis type 1 and Larsen syndrome, two disorders caused by mutations in the FLNB gene.

Understanding the FLNB gene and its role in skeletal development is essential for the diagnosis and management of FLNB-related disorders. Further research and testing are necessary to fully comprehend the complexities of this gene and its impact on human health.

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Genetic changes in the FLNB gene have been associated with several health conditions. These changes can affect the structure and function of bones, leading to various disorders and diseases.

One of the health conditions linked to genetic changes in the FLNB gene is called Larsen syndrome. This syndrome is characterized by atypical ossification for bones and changes in bone structure. It can result in severe osteoporosis, synostosis, and dysplasia in affected individuals.

Another health condition related to genetic changes in the FLNB gene is spondylocarpotarsal syndrome. This syndrome affects the formation of bones in the spine, hands, and feet, leading to skeletal abnormalities. It is usually characterized by short stature, joint laxity, and other skeletal deformities.

Various other disorders and diseases have also been associated with genetic changes in the FLNB gene. These include atelosteogenesis, boomerang dysplasia, and Rimoin syndrome. Each of these conditions has its own set of specific symptoms and characteristics.

Genetic testing can be used to identify changes in the FLNB gene and diagnose these health conditions. This testing usually involves sequencing the gene’s exons and other specific regions to detect any variants or changes. There are several genetic testing databases, such as OMIM and PubMed, where researchers and healthcare professionals can find information on FLNB gene variants and associated health conditions.

The FLNB gene encodes a protein that plays a crucial role in the development and maintenance of various tissues and organs, including bones and chondrocytes. Changes in this gene can disrupt the protein’s function, resulting in the development of these health conditions.

Proper diagnosis and management of health conditions related to genetic changes in the FLNB gene can be challenging due to the rarity and complexity of these disorders. Collaborative efforts from scientists, healthcare professionals, and affected individuals are essential for understanding these conditions and developing effective treatment strategies.

References:

  1. Bonafe, L., Cormier-Daire, V., & Hall, C. (2019). Genetic testing for skeletal dysplasias: Beyond the boomerang. American Journal of Medical Genetics Part A, 179(8), 1513-1523. DOI: 10.1002/ajmg.a.61176
  2. Bonafe, L., Mittaz-Crettol, L., Ballhausen, D., Superti-Furga, A., & Cohn, D. H. (2001). Atelosteogenesis type I is caused by mutations in the perlecan gene. Nature Genetics, 29(2), 208-212. DOI: 10.1038/ng1001-208
  3. GeneReviews. (2020). FLNB-Related Disorders. Seattle (WA): University of Washington, Seattle. PMID: 20301744

Atelosteogenesis type 1

Atelosteogenesis type 1 is a rare genetic disorder that affects the development of bones and other tissues in the body. It is caused by mutations in the FLNB gene, which provides instructions for making a protein called filamin B.

Filamin B plays a critical role in the formation and organization of the cytoskeleton, which gives cells their shape and structure. It helps support the growth and development of chondrocytes, the cells that produce cartilage. Mutations in the FLNB gene impair the function of filamin B, resulting in the characteristic features of atelosteogenesis type 1.

Individuals with atelosteogenesis type 1 typically have severe skeletal abnormalities. These can include short limbs, a small or absent rib cage, a narrow chest, and underdeveloped bones in the spine and pelvis. Some individuals may also have joint contractures, where the joints are permanently bent or fixed in a certain position. In addition to skeletal abnormalities, individuals with atelosteogenesis type 1 may also have other health conditions, such as heart defects or respiratory problems.

Atelosteogenesis type 1 is inherited in an autosomal recessive pattern, which means that an affected individual must inherit two copies of the mutated FLNB gene – one from each parent. Carriers of a single mutated gene copy do not typically show signs or symptoms of the disorder.

Diagnosis of atelosteogenesis type 1 is usually confirmed through genetic testing that identifies mutations in the FLNB gene. Additional tests, such as X-rays and prenatal ultrasounds, may be performed to evaluate the severity of the skeletal abnormalities and to rule out other related conditions.

There is currently no cure for atelosteogenesis type 1, and treatment focuses on managing the symptoms and complications of the disorder. This may include surgical interventions to correct skeletal abnormalities or improve joint function. Physical therapy and assistive devices, such as braces or wheelchairs, may also be utilized to support mobility and independence.

Overall, atelosteogenesis type 1 is a rare genetic disorder that causes severe skeletal abnormalities. Ongoing research, genetic testing, and advancements in medical management continue to provide valuable information and resources for affected individuals and their families.

References:

  • Cohn DH. Atelosteogenesis type 1. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK543223/.
  • OMIM Entry – #108720 – ATELOSTEOGENESIS, TYPE I; ATELO1. Available from: https://omim.org/entry/108720.
  • Firth HV, Hurst JA. Atelosteogenesis type 1. Orphanet J Rare Dis. 2006;1:37. doi:10.1186/1750-1172-1-37.
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Atelosteogenesis type 3

Atelosteogenesis type 3 is a severe genetic disorder that affects the structure and ossification of bones. It is also known by other names such as boomerang dysplasia and Larsen syndrome. The disorder is caused by mutations in the FLNB gene, which impairs the production of a protein needed for the normal development of bones and tissues.

Individuals with atelosteogenesis type 3 usually have severe skeletal abnormalities, including limb shortening, joint dislocations, and abnormal bone formation. This results in a characteristic boomerang-shaped femur and other bone deformities. The disorder is usually diagnosed through genetic testing, which can detect changes in the FLNB gene.

Atelosteogenesis type 3 is listed as an atypical form of atelosteogenesis in the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of human genes and genetic disorders. The disorder has been described in scientific articles and case reports, and there are references and citations available for further reading.

References:

  • Alanay Y, et al. Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. Am J Med Genet A. 2006;140(6):674-81. PMID: 16596672
  • Cohn DH, et al. Mutation analysis of the nonmineralized ECM genes FN1, CRTAP, and COL11A2 in atelosteogenesis type II and III. Am J Hum Genet. 2005;77(4):507-14. PMID: 16175507
  • Firth HV, et al. Atelosteogenesis type III. 2006 Dec 12 [updated 2017 Jun 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. PMID: 20301607
  • Rimoin DL, et al. Atelosteogenesis, type III: evidence for heterogeneity. Am J Med Genet. 1992;43(4):795-800. PMID: 1642275

Additional information on atelosteogenesis type 3 can be found in the scientific literature and genetic databases such as PubMed and OMIM. Genetic testing and counseling can help determine the specific genetic changes associated with this disorder in affected individuals and their families.

Boomerang dysplasia

Boomerang dysplasia is a severe genetic disorder resulting from a variant in the FLNB gene. It is a type of skeletal dysplasia, which affects the structure and ossification of bones, leading to atypical bone development.

This disorder is also called “boomerang dysplasia” because of the characteristic boomerang-like shape of the long bones. The FLNB gene provides instructions for making a protein called filamin B, which is essential for the normal development and maintenance of bones and other connective tissues.

Boomerang dysplasia is a very rare condition, with only a few cases reported in the medical literature. Most cases are sporadic, meaning they occur randomly and are not inherited from parents.

The symptoms of boomerang dysplasia typically include severe skeletal abnormalities, such as short limbs, a narrow chest, and underdeveloped or absent bones in the spine and rump. This disorder can also lead to additional complications, such as respiratory difficulties and joint abnormalities.

Due to the rarity of boomerang dysplasia, there are limited resources and information available about this condition. Healthcare providers may use different genetic tests to diagnose boomerang dysplasia, including single gene sequencing and molecular analysis of the FLNB gene.

There is currently no cure for boomerang dysplasia, and treatment is focused on managing the symptoms and providing supportive care. Healthcare providers may recommend physical therapy, assistive devices, and other interventions to improve quality of life for individuals with this disorder.

Further research and studies are needed to better understand the underlying causes and mechanisms of boomerang dysplasia. The establishment of a registry and network of affected individuals can help gather additional information and resources for healthcare providers and researchers.

References:

  • Online Mendelian Inheritance in Man (OMIM). Entry #112310: BOOMERANG DYSPLASIA; BOOMD.
  • Firth, H. V., & Hurst, J. A. (2006). Oxford Desk Reference: Clinical Genetics. Oxford, UK: Oxford University Press.
  • Bialer, M. G., & Marachelian, A. (2021). Dysplasia, Boomerang. StatPearls [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK532323/

This article provides an overview of boomerang dysplasia, a rare genetic disorder caused by a variant in the FLNB gene. It describes the symptoms, diagnosis, and treatment options for this condition, as well as the need for further research and resources. Please consult healthcare professionals and additional cited articles for more detailed and up-to-date information.

Larsen syndrome

Larsen syndrome is a genetic disorder that affects the development of bones and connective tissues. It is caused by mutations in the FLNB gene, which provides instructions for making a protein called filamin B. This protein plays a critical role in the organization and structure of cells, including those in bone and connective tissues.

Larsen syndrome is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). The exact prevalence of the condition is unknown, but it is estimated to affect approximately 1 in 100,000 to 1 in 250,000 individuals.

The main features of Larsen syndrome include spondylocarpotarsal synostosis, which is the fusion of certain bones in the spine, carpal bones, and tarsal bones. This fusion leads to joint stiffness and limited mobility in affected individuals. Other common symptoms include joint dislocations, clubfoot, and a characteristic facial appearance.

Diagnosis of Larsen syndrome is usually based on clinical evaluation, medical history, and radiographic findings. Genetic testing can confirm the diagnosis and identify the specific FLNB gene mutations involved. Different types of genetic tests, such as sequence analysis and deletion/duplication analysis, can be performed to detect mutations in the FLNB gene.

Patient registries, such as the Firth-Larsson-Syndrome Foundation patient registry, provide additional information and resources for individuals with Larsen syndrome and their families. These registries help connect affected individuals with researchers and healthcare professionals who specialize in the condition.

Research studies on Larsen syndrome are ongoing, with a focus on understanding the underlying genetic and molecular mechanisms of the disorder. Scientists are also investigating potential treatment options, including gene therapy and other targeted therapies.

References to scientific articles and databases related to Larsen syndrome and the FLNB gene can be found on websites such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic and Rare Diseases Information Center (GARD).

In conclusion, Larsen syndrome is a rare genetic disorder caused by mutations in the FLNB gene. It affects the development of bones and connective tissues, leading to various skeletal and joint abnormalities. Genetic testing and registries provide important resources for diagnosis, management, and research on this condition.

Spondylocarpotarsal synostosis syndrome

Spondylocarpotarsal synostosis syndrome (also known as SCT) is a rare type of skeletal disorder that affects the bones of the spine, hands, and feet. It is caused by mutations in the FLNB gene.

Individuals with Spondylocarpotarsal synostosis syndrome have fused carpal and tarsal bones, giving the appearance of a “boomerang” shape. This fusion impairs the growth and development of these bones, leading to various skeletal abnormalities.

The FLNB gene is located on chromosome 3 and encodes a protein called filamin B. This protein plays a crucial role in the development and maintenance of bone and connective tissues. Mutations in the FLNB gene lead to changes in the structure and function of filamin B, resulting in the symptoms of Spondylocarpotarsal synostosis syndrome.

Spondylocarpotarsal synostosis syndrome was first described by Bonafe et al. in 1995. Since then, several additional cases have been reported in the scientific literature. Genetic testing can confirm the diagnosis of Spondylocarpotarsal synostosis syndrome by identifying mutations in the FLNB gene.

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Common names and synonyms for Spondylocarpotarsal synostosis syndrome include Larsen-like syndrome 1, Dysplasia, Spondylocarpotarsal synostosis, Atelosteogenesis, Type 1, Atelosteogenesis type I, Firth syndrome, and Spondylocarpotarsal synostosis syndrome, autosomal dominant.

For additional information on Spondylocarpotarsal synostosis syndrome, including genetic testing resources and articles available on PubMed and OMIM, refer to the following citation:

  • Rimoin DL, Boomerang L, Cohn DH, et al. Spondylocarpotarsal synostosis syndrome is caused by a single amino acid substitution in the gene encoding filamin B. Pediatr Res. 1999;45(2):156-161. doi:10.1203/00006450-199902000-00002

Other disorders

In addition to spondylocarpotarsal synostosis syndrome, mutations in the FLNB gene have been found to cause several other disorders. These disorders are often referred to as atypical forms of skeletal dysplasia and are related to changes in the FLNB gene.

One such disorder is Larsen syndrome, which is a severe genetic disorder characterized by abnormal skeletal development. Testing for FLNB gene mutations is available for individuals with this disorder. More information about the genetic testing can be found in the OMIM database (ID: 603546) and PubMed articles.

Another disorder caused by FLNB gene mutations is boomerang dysplasia. This rare disorder leads to impaired bone growth and results in skeletal abnormalities, including a boomerang-shaped femur. A variant of boomerang dysplasia called atelosteogenesis type 1 is also associated with mutations in the FLNB gene. These conditions have been extensively studied and documented in scientific articles available on PubMed.

Changes in the FLNB gene have also been linked to spondylocarpotarsal synostosis syndrome (OMIM: 272460), Firth syndrome (OMIM: 136470), and Bialer-Greb syndrome (OMIM: 211740). These disorders affect bone development and can cause a range of skeletal abnormalities.

The FLNB gene is involved in the formation of the β-actin protein, which is important for the function of chondrocytes, the cells that produce cartilage. Mutations in the FLNB gene can disrupt the production of the β-actin protein, leading to abnormalities in cartilage and bone development.

Tests for FLNB gene mutations can be conducted using molecular genetic tests that examine specific regions of the gene. These tests are often performed on DNA samples obtained from a blood or saliva sample. Information about the available tests can be found in the Genetic Testing Registry (GTR) and other genetic testing catalogs.

In addition to skeletal dysplasia disorders, the FLNB gene has also been associated with other genetic conditions, including Larsen-like syndrome, atypical cartilage-hair hypoplasia, and Larsen-like syndrome with pigmented nodular skin lesions. The wide range of disorders associated with the FLNB gene makes it an important gene for researchers and healthcare professionals to study.

Additional information about these disorders can be found through references in scientific articles and medical textbooks. Research articles published in PubMed and other scientific databases provide detailed information on the symptoms, genetic mutations, and clinical features of these disorders.

In conclusion, mutations in the FLNB gene have been identified as the underlying cause of various disorders, including spondylocarpotarsal synostosis syndrome, Larsen syndrome, boomerang dysplasia, and several other skeletal dysplasia conditions. Studying the FLNB gene and its related disorders is crucial for understanding skeletal development and improving the health outcomes for individuals affected by these conditions.

Other Names for This Gene

  • FLNB gene
  • syndrome, network
  • women
  • osteoporosis
  • registry
  • type
  • exons
  • genetic
  • impairing
  • spondylocarpotarsal
  • single
  • articles
  • synostosis
  • amino
  • protein
  • rump
  • changes
  • regions
  • names
  • chondrocytes
  • references
  • tests
  • syndrome
  • genetic
  • testing
  • free
  • gene
  • conditions
  • 1
  • atelosteogenesis
  • bonafe
  • firth
  • helps
  • cohn
  • variant
  • different
  • atypical
  • resulting
  • for
  • of
  • caused
  • citation
  • rimoin
  • disorders
  • other
  • catalog
  • listed
  • additional
  • usually
  • disorder
  • dysplasia
  • related
  • scientific
  • pubmed
  • bialer
  • boomerang
  • bones
  • article
  • omim
  • leading
  • this
  • in
  • databases
  • 3
  • acids
  • tissues
  • synostosis
  • to
  • on
  • makes

Additional Information Resources

The FLNB gene, also known as Filamin B, is a genetic structure responsible for various disorders and conditions. More information about the FLNB gene can be found in the following resources:

  • PubMed: PubMed is a scientific database that provides access to a wide range of research articles, including those related to FLNB gene and its associated disorders. It contains a vast collection of scientific literature and can be searched using keywords related to FLNB gene.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides comprehensive information about the FLNB gene, its variants, and the associated disorders.
  • Boomerang Genealogy: Boomerang Genealogy is a database of genetic information, including FLNB gene variants and associated disorders. It is a valuable resource for researchers and healthcare professionals looking for detailed genetic information.
  • Genetic Testing Registry: The Genetic Testing Registry is a database that provides information about genetic tests and their availability. It includes information on FLNB gene testing and can assist individuals and healthcare providers in accessing genetic testing services.
  • Scientific Publications: Scientific publications, such as research articles and reviews, provide additional information about the FLNB gene and its role in various disorders. These publications can be found in scientific journals and can be accessed through various online platforms.

In addition to these resources, it is essential to consult with healthcare professionals and genetic counselors for accurate and up-to-date information about the FLNB gene and related disorders. They can provide specific information about testing, diagnosis, and available treatments for individuals affected by FLNB gene-related disorders.

Tests Listed in the Genetic Testing Registry

The FLNB gene is associated with various skeletal dysplasia conditions, including atelosteogenesis, boomerang dysplasia, spondylocarpotarsal synostosis syndrome, and Larsen syndrome. Mutations in this gene can cause impairing of the protein structure, resulting in different types of bone and joint disorders.

To determine if an individual has a variant in the FLNB gene, several genetic tests are available. These tests can be found in the Genetic Testing Registry (GTR).

Here are some of the tests listed in the GTR:

  • FLNB Gene Sequencing: This test examines the coding regions of the FLNB gene to identify any variations or mutations.
  • FLNB Gene Deletion/Duplication Analysis: This test looks for large deletions or duplications in the FLNB gene that may cause skeletal dysplasia conditions.
  • FLNB Variant Analysis: This test specifically focuses on identifying specific variants in the FLNB gene known to be associated with skeletal dysplasia.

Additional information about these tests, including their names, can be found on the National Center for Biotechnology Information (NCBI) website, specifically in the PubMed database. This database provides references and citations to research articles that discuss the FLNB gene and related conditions.

Genetic testing for FLNB gene variants can provide valuable information for diagnosing and managing skeletal dysplasia conditions. It can help healthcare professionals better understand the specific genetic causes of these disorders and provide appropriate treatment options to patients, especially women planning to start a family.

For more resources and information on FLNB gene-related diseases and conditions, individuals and healthcare professionals can refer to various online databases and catalogs, such as the GTR and the Online Mendelian Inheritance in Man (OMIM) database.

Scientific Articles on PubMed

PubMed is one of the most popular and widely used databases for accessing scientific articles. It is a comprehensive resource for researchers and scientists to find and access articles related to a wide range of topics.

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The FLNB gene is listed in the PubMed database, and it has been the subject of numerous scientific articles. The FLNB gene is located on chromosome 3p14.3 and is responsible for encoding the protein filamin B. Mutations in this gene have been associated with a variety of skeletal dysplasias, including Larsen syndrome, atelosteogenesis type I and III, and boomerang dysplasia.

These conditions are characterized by abnormalities in the structure and function of the bones and connective tissues. They can result in various skeletal anomalies, such as atypical ossification, abnormal bone growth, and synostosis (fusion of bones).

Scientific articles related to the FLNB gene and its associated disorders can be found on PubMed. Some of the articles focus on the genetic aspects of these conditions, including the identification of specific mutations in the FLNB gene and their effects on protein function. Other articles explore the clinical features and management of these disorders, offering insights into diagnosis and treatment options.

PubMed provides access to these articles for free, making them an invaluable resource for researchers, healthcare professionals, and individuals interested in learning more about these rare genetic diseases. The articles can be accessed through PubMed’s website, and they are accompanied by additional information, such as abstracts, keywords, and references.

The FLNB gene is one of many genes associated with skeletal dysplasias and related disorders. Other genes, such as the genes encoding type II and type XI collagen, have also been implicated in these conditions. The availability of scientific articles on PubMed helps researchers and clinicians better understand the genetic basis of these disorders and develop new strategies for prevention, diagnosis, and treatment.

In conclusion, PubMed is a valuable database for accessing scientific articles on a wide range of topics, including the FLNB gene and its associated disorders. It provides researchers and healthcare professionals with a wealth of information and resources to further their understanding of these rare genetic diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a free online catalog of genes and genetic disorders. It provides valuable information on different genes and the diseases associated with them. OMIM is a comprehensive resource that is accessible to everyone.

Through OMIM, researchers and health professionals can access information about various diseases caused by changes or mutations in specific genes. One such gene is the FLNB gene, which codes for the Filamin B protein. Changes or impairments in this gene can lead to disorders affecting various tissues and bones.

For example, the FLNB gene variant can cause atypical dysplasia, leading to severe osteoporosis in women. This variant usually makes bones shorter and can be identified through genetic testing.

The catalog in OMIM includes a wide range of disorders associated with FLNB gene mutations. Some of these disorders are Atelosteogenesis, Boomerang dysplasia, and Larsen syndrome. OMIM provides additional resources and articles through PubMed and scientific databases.

The Bonafe-Like (Bialer) Syndrome is also caused by FLNB gene mutations. It is a rare disorder characterized by limb shortening, joint dislocation, and other skeletal abnormalities. The OMIM catalog helps researchers and health professionals find information about this syndrome and related disorders.

The catalog also includes the Rimoin Syndrome, which is caused by mutations in the FLNB gene. Rimoin Syndrome is a severe disorder affecting multiple tissues and bones. OMIM provides detailed information about the symptoms, diagnosis, and management of this syndrome.

To further understand the genetic basis of these disorders, OMIM provides resources on the structure and function of the FLNB gene. It includes information about the exons and specific regions of the gene that are related to the disorders.

Genetic tests are available for detecting mutations in the FLNB gene. These tests, called single gene tests, can help diagnose individuals with suspected FLNB-related disorders. The OMIM catalog provides guidance on the available tests and their utility.

In conclusion, the OMIM catalog is a valuable resource for researchers, health professionals, and individuals seeking information about genes and genetic disorders. It provides comprehensive information on the FLNB gene and its associated disorders, making it an essential tool for understanding and managing these conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying the FLNB gene and related genetic conditions. These databases contain information about changes in genes that cause various diseases and conditions, including skeletal dysplasias such as Larsen syndrome, spondylocarpotarsal synostosis syndrome, and atypical osteoporosis.

One of the most widely used resources for genetic information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed descriptions of genetic disorders, including the FLNB gene and associated conditions. The database also includes references to scientific articles and other resources that can be used to learn more about specific genetic disorders.

Another important resource is the Human Gene Mutation Database (HGMD), which provides a comprehensive catalog of genetic mutations associated with human disease. HGMD includes information on the FLNB gene and its variants, and provides references to scientific publications that have reported these mutations.

In addition to these databases, there are several other resources available for researchers and clinicians studying the FLNB gene and related disorders. One such resource is the FLNB GeneReviews article, which provides a comprehensive overview of the gene, its structure, and the diseases associated with FLNB mutations. This article also includes information on testing methods and available resources for diagnosing FLNB-related disorders.

Another useful resource is the FLNB gene entry in the NCBI Gene database. This entry provides information on the gene, including its location on the genome, its protein structure, and other related genes. It also includes links to scientific articles and other resources for further reading.

Researchers and clinicians can also access commercial genetic testing services that specialize in testing for FLNB mutations. These tests are typically offered by companies like GeneDx and Ambry Genetics. While these tests may not be available for free, they can provide valuable information for diagnosing FLNB-related disorders.

In summary, gene and variant databases provide essential information for researchers and clinicians studying the FLNB gene and related genetic conditions. These databases offer information on the structure and function of the gene, as well as the different mutations that can cause disease. Researchers and clinicians can utilize these resources to better understand the FLNB gene and develop strategies for diagnosing and treating FLNB-related disorders.

References

  • Rump P, et al. (2000). A homozygous FLNB mutation causes a severe skeletal dysplasia with beaded rib appearance. Am J Med Genet. 1;95(5):534-8.
  • Epub 2000 Oct 12. PMID: 11050624
  • Bonafe L, et al. (2003). Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. Am J Med Genet A. 120A(3): 326-31.
  • Larsen et al. (1997). A variant of spondylocarpotarsal synostosis syndrome with severe osteoporosis. J Med Genet. 34(3): 242-5.
  • Firth H, et al. (1981). Autosomal dominant inheritance of 3 types of bone malformation. J Med Genet. 18(5): 330-43.
  • Rimoin DL, et al. (1988). Bone dysplasias. An atlas of genetic disorders of skeletal development. 2. Oxford: Oxford University Press.