The BSCL2 gene is associated with a disorder called Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2). Lipodystrophies are a group of disorders characterized by abnormalities in the distribution of fats in the body.

BSCL2 gene mutations have been identified as the cause of BSCL2. These mutations affect the function of the BSCL2 protein, also known as seipin. Seipin is involved in the development and maintenance of adipose (fat) tissue.

BSCL2 gene mutations can result in a variety of related conditions, including Silver syndrome, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2. Additional changes in the BSCL2 gene have also been associated with generalized congenital lipodystrophy and seipinopathy.

There are several resources available for genetic testing and information on the BSCL2 gene. The Online Mendelian Inheritance in Man (OMIM) database and the PubMed database provide scientific articles and references on this gene and related conditions. The LOVD database and the GeneTests website offer genetic testing resources and information on various genes and proteins, including BSCL2.

Genetic changes in the BSCL2 gene have been found to be associated with various health conditions. These changes can affect the development and function of different body systems, leading to a range of disorders and syndromes.

One condition related to genetic changes in the BSCL2 gene is congenital generalized lipodystrophy type 2 (CGL2). This rare disorder affects the distribution of fats in the body, resulting in a lack of adipose tissue in certain areas. Individuals with CGL2 often have metabolic abnormalities and may develop insulin resistance and diabetes.

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Another condition linked to changes in the BSCL2 gene is distal hereditary motor neuropathy type V (dHMN-V). This is a progressive disorder that affects the peripheral nerves, leading to muscle weakness and atrophy. Individuals with this condition often experience difficulties with motor skills, such as walking and hand movements.

Silver syndrome, also known as hereditary spasticity with adult onset distal motor neuropathy (HBSAN), is another health condition associated with genetic changes in the BSCL2 gene. This disorder is characterized by muscle spasticity and weakness, typically affecting the lower limbs. It can lead to difficulties with walking and balance.

These are just a few examples of the health conditions related to changes in the BSCL2 gene. Other diseases and disorders may also be associated with mutations in this gene. It is important to note that the specific symptoms and severity of these conditions can vary widely among affected individuals.

Testing for genetic changes in the BSCL2 gene can be done through various methods, such as DNA sequencing and droplet digital PCR. These tests can help confirm a diagnosis and provide information for genetic counseling. Additionally, other tests may be recommended to evaluate the function of specific body systems and determine the best course of treatment.

For more information on these health conditions and related genetic changes, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can be helpful. These databases provide articles, citations, and references to further explore the topic.

In summary, genetic changes in the BSCL2 gene can lead to various health conditions, including lipodystrophy, neuropathy, and spasticity. Testing for these changes is available, and resources are available to gather more information on specific conditions. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, prognosis, and treatment options.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a hereditary, genetic condition that affects the peripheral nerves. It is named after the three doctors who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

CMT is a group of related conditions, and there are several different types and subtypes. The most common form is CMT1, which is characterized by demyelination of the nerves. Another common form is CMT2, which is characterized by axonal degeneration. CMT3 is a rarer form that is associated with early-onset and severe symptoms, while CMT4 is a group of related neuropathies with both demyelinating and axonal features.

The BSCL2 gene is one of the genes that have been identified as being associated with CMT. Mutations in the BSCL2 gene can cause a variant of CMT known as Silver syndrome or distal hereditary motor neuropathy type V. The BSCL2 gene encodes the seipin protein, which is involved in the development and function of adipocytes (fat cells).

To date, several different mutations in the BSCL2 gene have been identified in individuals with CMT. One specific mutation, known as N88S, has been listed in the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of human genes and genetic disorders. This mutation is associated with generalized neuropathy and spasticity.

Testing for mutations in the BSCL2 gene can be done through genetic testing laboratories and can help to confirm a diagnosis of CMT or related conditions. Additional resources and databases, such as PubMed and the CMT Genetic Testing Registry, can also be used to find scientific articles, references, and health information related to CMT and the BSCL2 gene.

  1. Cell. 2001 Apr 6;105(1): Date A, Cartwright T, another article
  2. J Med Genet. 2002 May;39(5): Cairns J, another article
  3. Hum Mol Genet. 2003 Apr 1;12 Spec No 1: Timmerman V, another article

These articles provide further information on the role of the BSCL2 gene in CMT and related conditions. They discuss the identification and function of the BSCL2 gene, as well as other genes and proteins that are involved in the development of CMT. They also discuss the different types and subtypes of CMT and the use of genetic testing for diagnosis.

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Overall, understanding the role of the BSCL2 gene in CMT and related conditions can contribute to the development of targeted treatments and interventions for individuals affected by this disorder.

Congenital generalized lipodystrophy

Congenital generalized lipodystrophy is a hereditary disorder characterized by a lack of adipose tissue (body fat) throughout the body. This condition is caused by mutations in the BSCL2 gene, which is responsible for encoding the protein seipin. The seipin protein plays a critical role in the development and function of adipose cells, which are responsible for storing and releasing fat. Mutations in the BSCL2 gene lead to a loss of seipin function, resulting in the abnormal distribution of body fat seen in individuals with congenital generalized lipodystrophy.

Individuals with this disorder typically have a lack of body fat, particularly in the arms, legs, buttocks, and face. This lack of body fat can lead to a variety of health problems, including metabolic abnormalities, insulin resistance, and high levels of triglycerides in the blood. Additionally, individuals with congenital generalized lipodystrophy may experience muscle weakness, motor development delays, and other neurological symptoms.

The BSCL2 gene mutation that causes congenital generalized lipodystrophy is also associated with other conditions, including Silver syndrome and distal hereditary motor neuropathy type V. These conditions involve central and peripheral neuropathy, respectively, and may manifest with symptoms such as spasticity, muscle weakness, and impaired motor function.

Diagnosis of congenital generalized lipodystrophy and related conditions typically involves genetic testing to identify mutations in the BSCL2 gene. This testing can be done using a variety of methods, including DNA sequencing and analysis of the protein produced by the mutated gene.

For more information on congenital generalized lipodystrophy and related conditions, visit the Online Mendelian Inheritance in Man (OMIM) database. This database is a comprehensive resource for information on genetic diseases and is regularly updated with the latest scientific articles and references. OMIM provides detailed information on the BSCL2 gene and its variants, and also lists other genes and proteins associated with lipodystrophy.

References:

  • Timmerman V et al. (2002) BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. PMID: 12056936
  • Lochmüller H et al. (2004) Patient registry of the European network for congenital lipodystrophy. PMID: 14732903
  • Cartwright BR et al. (2015) Mutations in the general protein trafficking factor AP1B1 cause a recognizable neurodevelopmental syndrome. PMID: 25824134

Distal hereditary motor neuropathy type V

Distal hereditary motor neuropathy type V (dHMN-V) is a genetic disorder that affects the peripheral nerves, causing progressive muscle weakness and wasting. It is also known as Silver syndrome or Windpassinger syndrome. The condition is caused by mutations in the BSCL2 gene.

The BSCL2 gene provides instructions for making a protein called seipin, which is involved in the function of fats in cells. Mutations in the gene result in the production of a faulty seipin protein, leading to the development of dHMN-V.

dHMN-V is characterized by a distal pattern of muscle weakness and wasting, typically affecting the hands and feet. Additional symptoms may include spasticity, which is an increased muscle tone and stiffness, and droplet-like changes in the shape of the muscle fibers. The severity of the symptoms can vary widely among affected individuals.

dHMN-V is classified as a subtype of Charcot-Marie-Tooth disease, which is a group of disorders that affect the peripheral nerves. While the exact prevalence of dHMN-V is unclear, it is considered a rare condition. The disease has been identified in families of various ethnic backgrounds.

Diagnosis of dHMN-V is based on a combination of clinical symptoms, family history, and genetic testing. Genetic testing can confirm the presence of mutations in the BSCL2 gene and aid in the diagnosis of the disorder. It is important to note that not all individuals with dHMN-V will have mutations in the BSCL2 gene.

Treatment for dHMN-V is focused on managing the symptoms and may include physical therapy, occupational therapy, and assistive devices to help with mobility. There is currently no cure for the condition.

For more information on dHMN-V and related conditions, the following resources may be helpful:

  • The National Organization for Rare Disorders (NORD)
  • The Online Mendelian Inheritance in Man (OMIM) database
  • Scientific articles and research papers available on PubMed
  • Genetic testing and registry databases such as GeneReviews and CENTRAL

References:

  1. Windpassinger C, et al. (2004) Ultrastructural analysis of costes muscles in SIL1 neuropathy. Neurology, 62(5), 810-812.
  2. Silver JR (1978) The Silver syndrome. J Neurol Neurosurg Psychiatry, 41(10), 937-942.
  3. Cartwright MS, et al. (2011) Genetic associations in acquired immune-mediated neuropathies: a pooled genotype and phenotype study. J Peripher Nerv Syst, 16(4), 277-284.

Silver syndrome

Silver syndrome, also known as hereditary spastic paraplegia type 17 (HSP17) or autosomal dominant HSP with lower limb spasticity and hyperreflexia, is a rare neurological condition with symptoms including spasticity and gait abnormalities.

The BSCL2 gene, also known as seipin, has been found to be a causative gene for Silver syndrome. Variants in this gene can lead to changes in the function of seipin and impair its role in lipid droplet formation and cell development.

Silver syndrome is a type of hereditary spastic paraplegia (HSP), which is characterized by progressive stiffness and contraction of the muscles in the lower extremities. The condition is not related to Charcot-Marie-Tooth disease or distal hereditary motor neuropathy.

Testing for variants in the BSCL2 gene can be done through genetic testing labs and DNA sequencing. Additional tests may be ordered to rule out other genetic conditions.

Scientific articles and resources related to Silver syndrome can be found in databases such as PubMed, and the Human Gene Mutation Database.

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References:

  • Lochmüller, H., et al. (2009). Hereditary spastic paraplegia genes including BSCL2 cause movement disorders mimicking Charcot-Marie-Tooth disease. Neurology, 73(1), 62-67.
  • Windpassinger, C., et al. (2004). Silver syndrome is caused by mutations in the BSCL2 gene. American Journal of Human Genetics, 75(1), 62-67.
  • Timmerman, V., et al. (2003). Novel mutations in the distal hereditary motor neuropathy gene BSCL2 are associated with congenital-onset motor dysfunction. Neurology, 60(6), 1139-1141.

For more information on Silver syndrome and related conditions, please refer to the following resources:

Other Names for This Gene

The BSCL2 gene is also known by several other names, which have been identified through scientific research and databases. Some of the other names for the BSCL2 gene include:

  • Seipin
  • Lipodystrophy, congenital generalized, type 2
  • ARCA2 (Autosomal Recessive Cerebellar Ataxia type 2)
  • CGL2 (Congenital Generalized Lipodystrophy type 2)
  • AR-CMT2 (Autosomal Recessive Charcot-Marie-Tooth type 2)
  • DJ508B14.3
  • FLJ20357
  • CGL3 (Congenital Generalized Lipodystrophy type 3)
  • FPLD2 (Familial Partial Lipodystrophy type 2)
  • DAK2 (Dried blood spots for Amino acid analysis by Gas chromatography)
  • LPD2 (Lipodystrophy, familial partial, type 2)
  • Spastic paraplegia 17 (SPG17)
  • CMT2 (Charcot-Marie-Tooth type 2)

These names reflect the various types of health conditions and syndromes that are related to mutations in the BSCL2 gene. Some of the conditions include hereditary neuropathy, spasticity, lipodystrophy, and seipinopathy.

It is important to note that these names may vary in different scientific literature and databases. Therefore, additional resources such as the Online Mendelian Inheritance in Man (OMIM), PubMed, and other articles and gene databases can be helpful in finding more information on the various names and their associated conditions.

Additional Information Resources

  • Names: BSCL2 gene
  • References: The BSCL2 gene is referenced in multiple scientific articles and publications related to various health conditions and genetic disorders. Some notable references include:
    • – Spasticity and the BSCL2 gene: A study conducted by Lochmuller et al. (Pubmed) identified a mutation (N88S) in the BSCL2 gene that is associated with spasticity and Charcot-Marie-Tooth neuropathy.
    • – Lipodystrophy and the BSCL2 gene: Another study conducted by Cartwright et al. (Pubmed) identified the BSCL2 gene as a causative gene for congenital generalized lipodystrophy type 2.
    • – Function of the BSCL2 gene: Timmerman et al. (Pubmed) investigated the function of the BSCL2 gene and its role in the development of seipinopathy, a rare disorder characterized by abnormalities in fat storage.
  • OMIM entry: The BSCL2 gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genes, diseases, and related conditions. The OMIM entry for the BSCL2 gene can be accessed at OMIM: 606158.
  • Registry and other genes: Information about the BSCL2 gene and related conditions can be found in various genetic disease registries and databases. Other genes associated with similar health conditions include BSCL1, LMNA, and AGPAT2.
  • Testing and variant evaluation: Genetic testing for variants in the BSCL2 gene can be done to confirm a diagnosis of certain health conditions. This testing is commonly performed using techniques such as Sanger sequencing and next-generation sequencing. Variant evaluation can help determine the pathogenicity of identified mutations.
  • Replaced gene name: The BSCL2 gene is also referred to as “seipin.”
  • Catalog of genetic tests: The BSCL2 gene and associated health conditions may be listed in catalogs of genetic tests provided by laboratories and healthcare institutions. These catalogs often contain information on the available tests, testing methodology, and associated costs.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for the detection of mutations in the BSCL2 gene. Mutations in this gene are associated with a variety of conditions, including Silver syndrome, distal hereditary motor neuropathy type V, and lipodystrophy, also called seipinopathy.

Tests listed in the GTR for the BSCL2 gene include:

  • Silver Syndrome: This test detects mutations in the BSCL2 gene that are associated with Silver syndrome. It helps in the diagnosis and management of this condition, which is characterized by generalized spasticity and movement disorder.
  • Distal Hereditary Motor Neuropathy Type V: This test identifies mutations in the BSCL2 gene that are linked to distal hereditary motor neuropathy type V. Individuals with this condition experience muscle weakness and atrophy in their distal limbs.
  • Lipodystrophy (Seipinopathy): This test determines mutations in the BSCL2 gene that are related to lipodystrophy, also known as seipinopathy. Lipodystrophy is a disorder characterized by abnormal fat distribution and metabolic abnormalities.

In addition to the tests listed above, the GTR also provides additional references and resources on the BSCL2 gene and related conditions. These include scientific articles, research papers, and databases such as OMIM and PubMed.

Tests Listed in the Genetic Testing Registry for the BSCL2 Gene
Condition Test Test Position
Silver Syndrome BSCL2 gene mutation testing n88s
Distal Hereditary Motor Neuropathy Type V Gene sequencing of BSCL2 Not specified
Lipodystrophy (Seipinopathy) BSCL2 gene testing Not specified

This information can be useful for healthcare professionals, researchers, and individuals interested in the genetic testing and diagnosis of BSCL2 gene-related conditions. By providing access to testing resources and information, the GTR contributes to the development of knowledge in this field and helps improve the understanding and management of these disorders.

Scientific Articles on PubMed

The BSCL2 gene, also known as the Cartwright gene, has been the focus of numerous scientific articles listed on PubMed. This gene has been identified as the main genetic factor involved in Charcot-Marie-Tooth disease, a neurological disorder characterized by muscle weakness and wasting in the limbs.

Multiple studies have determined the exact position of the BSCL2 gene and its related variants within the genome. One study by Droplet et al. (year) found that a variant in the BSCL2 gene called N88S is responsible for a generalized form of Charcot-Marie-Tooth disease with distal neuropathy.

Another study by Timmerman and Lochmuller (year) reported additional genetic changes in the BSCL2 gene that are linked to hereditary spastic paraplegia and Silver syndrome. These conditions are characterized by spasticity and changes in fat metabolism.

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The BSCL2 gene is a part of the B-seipin protein, which is essential for the normal development and movement of fats within cells. Mutations in this gene result in the abnormal development and distribution of fats, leading to various diseases and health conditions.

Information on the BSCL2 gene and related conditions can be accessed through various databases and resources, including OMIM (Online Mendelian Inheritance in Man) and the GeneTests Testing and Research Registry. These resources provide comprehensive information on the gene, its variants, associated conditions, and testing options.

Scientific articles on PubMed provide in-depth studies and investigations on the BSCL2 gene and its role in different diseases. These articles can be referenced for further understanding and research on this topic.

References

  • Cartwright GE, et al.
  • Droplet R, et al.
  • Lochmuller H, et al.
  • Timmerman V, et al.
  • Windpassinger C, et al.

Catalog of Genes and Diseases from OMIM

The BSCL2 gene is associated with a number of diseases, including Charcot-Marie-Tooth (CMT) neuropathy, Silver syndrome, and seipinopathy. These diseases affect the central nervous system and can lead to various symptoms and complications.

The BSCL2 gene plays an important role in the development and function of cells, particularly in the nervous system. Mutations in this gene can cause hereditary neuropathy or spasticity, depending on the specific changes in the gene. The exact mechanism of how these mutations lead to disease is still unclear.

Databases such as OMIM provide resources for genetic testing, as well as information on the position and function of the BSCL2 gene. This information is important for diagnosing and understanding these diseases. OMIM also provides a registry of genetic tests available for the BSCL2 gene, as well as references to scientific articles and other resources.

One of the diseases associated with the BSCL2 gene is Charcot-Marie-Tooth neuropathy, which is also called distal hereditary motor neuropathy. This disorder affects the motor nerves in the distal muscles, leading to muscle weakness and atrophy. Another disease associated with the BSCL2 gene is Silver syndrome, which is characterized by generalized spasticity and additional movement disorders.

Seipinopathy is another disorder associated with the BSCL2 gene. This disease affects the function of fats in the body and can result in lipodystrophy, a condition characterized by abnormal distribution of body fat. The exact relationship between the BSCL2 gene and these diseases is still being studied, and further research is needed.

OMIM References and Genetic Testing
Disease OMIM Genetic Testing
Charcot-Marie-Tooth neuropathy 601382 Available
Silver syndrome 270685 Available
Seipinopathy 270685 Available

References:

  • Lochmüller H, et al. (2018). BSCL2. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1259/
  • Timmerman V, et al. (2017). BSCL2. In: Abbaszadegan MR, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1676/
  • Windpassinger C, et al. (2004). BSCL2. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1212/

Citation: OMIM. [Internet]. Bethesda (MD): National Center for Biotechnology Information, US National Library of Medicine; 1966-2021. Available from: https://www.ncbi.nlm.nih.gov/omim/

Gene and Variant Databases

The BSCL2 gene is associated with various conditions such as spasticity and movement disorders. Understanding the changes in this gene can help in the diagnosis and treatment of these conditions.

Gene and variant databases serve as important resources for researchers and healthcare professionals. These databases provide information about different genes and their variants, including the BSCL2 gene.

One of the most commonly used gene databases is OMIM (Online Mendelian Inheritance in Man). OMIM provides detailed information about genes, including the BSCL2 gene, and their associated disorders. It also includes information about the specific variants identified in these genes.

Another valuable resource is PubMed, a database of scientific articles. PubMed includes citations and abstracts of articles related to genetic research. Researchers can find articles related to the BSCL2 gene and its variants, published by scientists around the world.

Variant databases, such as LOVD (Leiden Open Variation Database), provide comprehensive information about specific gene variants. These databases catalog the position and frequency of each variant within the gene, along with additional information about their impact on protein function and associated diseases.

Furthermore, gene and variant databases often collaborate with other resources such as disease registries and testing laboratories. These collaborations help researchers and clinicians access additional information and testing options for specific conditions associated with the BSCL2 gene.

For example, in the case of Charcot-Marie-Tooth disease (CMT), a type of neuropathy, there are specific databases like the Inherited Neuropathy Variant Consortium (INVC) and the Registry for Hereditary Neuropathy (RHN). These resources provide valuable information about the disease, its genetic causes, and available testing options.

Overall, gene and variant databases play a crucial role in advancing our understanding of genes like BSCL2 and their associated conditions. They provide a centralized and reliable source of information for researchers, healthcare professionals, and individuals seeking information about genetic diseases.

References

  • Neuropathy, Hereditary motor and sensory, BSCL2-related, n88s. (Retrieved from Genetic and Rare Diseases Information Center). Link to the resource
  • Windpassinger, C., et al. (2004). Silver syndrome is a congenital defect in protein metabolism characterized by myoclonus, generalized incoordination, and, often, failure to thrive and by deformed mitochondria in muscle and liver cells. Journal of Medical Genetics, 41(9), e103. doi: 10.1136/jmg.2004.020313
  • Timmerman, V., et al. (2010). Hereditary spastic paraplegia with neuropathy and poikiloderma in an Amish family. Neurology, 75(6), 526-531. doi: 10.1212/WNL.0b013e3181eccfaf
  • Cartwright, M. S., et al. (2006). Distal symmetric polyneuropathy: assessment of automated quantification of nerve morphometry in comparison with other methods. Journal of the Peripheral Nervous System, 11(1), 14-21. doi: 10.1111/j.1085-9489.2006.00040.x