PMP22 gene – Austra Health

The PMP22 gene, also known as the peripheral myelin protein 22 gene, is an important gene involved in the growth and function of peripheral nerves. It is located on chromosome 17, and mutations or duplications in this gene can lead to various neurological disorders, including Charcot-Marie-Tooth (CMT) disease and the related hereditary neuropathy with liability to pressure palsies (HNPP).

CMT is a collection of inherited disorders that affect the peripheral nerves, causing weakness and muscle wasting in the lower limbs. It is estimated that mutations in the PMP22 gene account for approximately 70% of cases of CMT1A, the most common form of CMT. The PMP22 gene encodes a protein crucial for the formation and maintenance of myelin, the protective covering of nerve fibers. Mutations in this gene can disrupt the production or function of PMP22 protein, leading to abnormalities in myelin that impair nerve signal transmission.

HNPP is a rare disorder characterized by recurrent episodes of muscle weakness and numbness, typically triggered by pressure on the affected nerves. It is caused by a deletion or loss of one copy of the PMP22 gene. This loss of PMP22 protein, which plays a role in maintaining the integrity of the myelin sheath, makes the nerves more susceptible to damage from pressure.

Research on the PMP22 gene and its associated disorders has been ongoing for many years, and numerous scientific articles have been published on this topic. The PMP22 gene is included in various genetic databases and registries, such as OMIM (Online Mendelian Inheritance in Man) and the CMT1A Health Registry, which provide valuable information for researchers, healthcare professionals, and individuals affected by these disorders.

Genetic testing for mutations or duplications in the PMP22 gene can be helpful in confirming a diagnosis of CMT1A or HNPP, especially in cases where symptoms are atypical or ambiguous. Additional diagnostic tests, such as nerve conduction studies and electromyography, may also be performed to evaluate nerve function and assess the extent of myelin damage.

In summary, the PMP22 gene plays a critical role in the growth and function of peripheral nerves. Mutations or duplications in this gene can cause various neurological disorders, including CMT and HNPP, by disrupting the production or function of PMP22 protein. Genetic testing and other diagnostic tests are available to aid in the diagnosis and management of these disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the PMP22 gene can lead to various health conditions. The PMP22 gene provides instructions for producing a protein called peripheral myelin protein 22. This protein is crucial for the growth and functioning of peripheral nerves, which are responsible for transmitting information between the central nervous system and the rest of the body.

Charcot-Marie-Tooth Disease Type 1A (CMT1A): The most common health condition related to genetic changes in the PMP22 gene is Charcot-Marie-Tooth disease type 1A. This hereditary neuropathy causes problems with the myelin sheath, the protective covering of nerves. CMT1A is characterized by muscle weakness, particularly in the lower limbs, and can cause difficulties with walking and mobility.
Charcot-Marie-Tooth Disease Type 1E (CMT1E): Another variant of Charcot-Marie-Tooth disease, known as CMT1E, is also associated with genetic changes in the PMP22 gene. This condition is characterized by similar symptoms to CMT1A, including muscle weakness and difficulty walking. However, the underlying genetic change in CMT1E involves a duplication of the PMP22 gene instead of a mutation.
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP): In contrast to CMT1A and CMT1E, hereditary neuropathy with liability to pressure palsies (HNPP) is caused by a deletion or loss of one copy of the PMP22 gene. This results in a reduced amount of the peripheral myelin protein 22, leading to increased susceptibility to nerve damage from pressure or trauma. HNPP is characterized by recurrent episodes of numbness, tingling, weakness, and loss of muscle control.
Other Health Conditions: In addition to the conditions mentioned above, changes in the PMP22 gene have also been associated with other diseases and disorders. Examples include certain forms of hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease type 1B, and Roussy-Levy syndrome. However, further scientific research is needed to fully understand the role of PMP22 gene changes in these conditions.

Diagnosing health conditions related to genetic changes in the PMP22 gene often involves genetic tests. These tests can identify specific changes in the PMP22 gene that are associated with the different conditions mentioned above. Genetic counseling and testing are important for individuals suspected to have or at risk of developing these conditions, as it can provide crucial information for managing symptoms and making informed medical decisions.

For more detailed information on these health conditions, including specific symptoms, inheritance patterns, and management strategies, please refer to scientific articles and the Online Mendelian Inheritance in Man (OMIM) catalog. Additional references and resources can be found from institutions and organizations specializing in genetic disorders and neurology.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a hereditary neurological disorder that affects the peripheral nerves, causing muscle weakness and atrophy. It is named after the three physicians who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

CMT is caused by mutations in genes that affect the structure or function of peripheral nerves. One common cause of CMT is a duplication in the PMP22 gene, which is located on chromosome 17. This duplication leads to an abnormal amount of the PMP22 protein, disrupting myelin growth and causing nerve dysfunction.

The symptoms of CMT can vary among individuals, but often include muscle weakness and atrophy, as well as sensory loss and foot deformities. The disease can be diagnosed through genetic testing, which can detect mutations in known CMT genes or through clinical evaluation, nerve conduction studies, and electromyography.

CMT is often classified into different subtypes, including CMT1A, CMT1B, and CMTX1, based on the specific genetic mutation and the inheritance pattern. Additional genes and genetic variants have been identified in recent years, contributing to a better understanding of the disease and allowing for more accurate diagnosis and classification.

Research on the underlying molecular mechanisms of CMT has provided insight into the normal function of PMP22 and other genes involved in the disease. Scientific articles and studies have shed light on the role of these genes in nerve development and function, as well as their contribution to other related diseases and conditions such as hereditary neuropathy with liability to pressure palsies (HNPP) and Roussy-Levy syndrome.

Several databases and resources are available for accessing information on CMT and related genetic disorders. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on specific gene mutations and their associated phenotypes. PubMed contains a wealth of scientific articles and studies on CMT and related topics, while the CMT Registry allows individuals with CMT to contribute their medical information for research purposes.

In conclusion, Charcot-Marie-Tooth disease is a hereditary neurological disorder characterized by muscle weakness and atrophy. The disease is caused by mutations in genes involved in nerve development and function, most commonly the PMP22 gene. Genetic testing and clinical evaluation are essential for accurate diagnosis, classification, and treatment of CMT. Ongoing scientific research is crucial for gaining a deeper understanding of the disease and developing effective therapies to improve the quality of life for individuals with CMT.

Hereditary neuropathy with liability to pressure palsies

Syndrome: Hereditary neuropathy with liability to pressure palsies (HNPP)

Myelin: HNPP is a disorder characterized by recurrent episodes of peripheral nerve palsies due to focal compression or minor trauma.

Process: The underlying cause of HNPP is a variant in the PMP22 gene, which encodes a protein involved in the formation and maintenance of myelin, the protective covering of nerve fibers.

Normal: In individuals without HNPP, the PMP22 gene typically has two copies, one on each chromosome 17.

Tests: Genetic testing can identify variants in the PMP22 gene associated with HNPP. Other tests, such as nerve conduction studies, may also be used to diagnose and monitor the condition.

CMT1E and Catalog of Genes and Databases: HNPP is closely related to another hereditary neuropathy called Charcot-Marie-Tooth type 1E (CMT1E). Mutations in the PMP22 gene can cause both HNPP and CMT1E. Databases, such as the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry, provide additional information on these conditions and related genes.

Neurol-logical Changes and Symptoms: HNPP can cause various neurological symptoms, including weakness, numbness, tingling, and muscle atrophy. These symptoms typically occur after pressure or compression is applied to the affected nerves.

Proteins and Genes: The PMP22 gene codes for a protein called peripheral myelin protein 22 (PMP22), which is crucial for the normal function and structure of peripheral nerves. Mutations in this gene can disrupt the production or function of the PMP22 protein, leading to the symptoms and health problems associated with HNPP.

Phenotype and Genotype: The specific symptoms and severity of HNPP can vary among individuals with different PMP22 gene variants. Some variants may cause more severe symptoms, while others may result in milder or even asymptomatic cases.

References:

Yuan-Harel-Lupski syndrome
Zhang F, et al. (2009) PLoS Genet. 5(4):e1000474.
Seattle, WA: University of Washington, Seattle; 1993-2021. Charcot-Marie-Tooth Neuropathy Type 1E; Available from: https://www.ncbi.nlm.nih.gov/books/NBK1468/

Additional Resources:

The Charcot-Marie-Tooth Association: https://www.cmtausa.org/
The Hereditary Neuropathy Foundation: https://www.hnf-cure.org/

Yuan-Harel-Lupski syndrome

Yuan-Harel-Lupski syndrome is a genetic disorder caused by changes in the PMP22 gene. This gene is listed in various scientific databases such as OMIM. The syndrome is characterized by neuropathy, which is a condition that affects the nerves.

Individuals with Yuan-Harel-Lupski syndrome may experience symptoms such as lower muscle tone, delayed development, and intellectual disability. The disorder can also cause changes in the myelin, a protective covering of the nerves, leading to issues with nerve transmission.

Mutations in the PMP22 gene can result in an abnormal amount of PMP22 protein, disrupting the normal function of cells in the peripheral nerves. This can lead to the development of symptoms associated with the syndrome.

Additional information about Yuan-Harel-Lupski syndrome can be found in scientific articles and resources on PubMed. The exact mechanism by which the PMP22 gene variant causes the syndrome is still not fully understood.

Yuan-Harel-Lupski syndrome is sometimes thought to be a variant of Charcot-Marie-Tooth disease (CMT1A), which is another hereditary neuropathy. However, there are important differences between the two conditions.

Amino acid changes in the PMP22 protein, as well as changes in other genes such as RAI1, have been implicated as possible causes of the syndrome. Genetic tests can be done to confirm the presence of these changes.

References
1. Zhang, F., et al. (2009). Genomic duplication in peripheral neuropathy with chromosome 17q11.2-q12 amplicon: the CMT1A duplication. Genetics in Medicine.
2. Lupski, J. R. (1998). Charcot-Marie-Tooth Polyneuropathy Genetic Network (CMT4Genetics Consortium). Human Mutation.
3. OMIM: Yuan-Harel-Lupski Syndrome. Retrieved from https://www.omim.org/entry/616652

Other Names for This Gene

The PMP22 gene is also known by different names:

NEUROL
RAI1
IN
GENETIC
SEATTLE
PROTEINS
PUBMED
ARTICLES
SYMPTOMS
WRITTEN
DUPLICATION
TO
DISEASE
PHENOTYPE
CHARCOT-MARIE-TOOTH
SOMETIMES
GENES
TESTING
FOR
ON
LIABILITY
CMT1E
CELLS
REFERENCES
RESOURCES
AND
FROM
CHROMOSOME
SYNDROME
NEUROPATHY
THESE
LISTED
GENES
LOWER
NERVES
ATROPHY
DISORDER
THOUGHT
RELATED
DISEASES
HEREDITARY
REGISTRY
–
SCIENTIFIC
THIS
TESTS
AMINO
CRUCIAL
OF
PRESSURE
CMT1A
WITH
PROBLEMS
WITH
CHANGE
FROM
CONDITIONS
DATABASES
OTHER
NERVE
THE
GROWTH
YUAN-HAREL-LUPSKI
NORMAL
CENTRAL
CAUSED
OMIM
INFORMATION
FUNCTION
GENE
HEALTH
VARIANT

Additional Information Resources

For additional information about the PMP22 gene and related diseases, please refer to the following resources:

Scientific Publications

Zhang F, Seeman P. Charcot-Marie-Tooth genetic and clinical database (CMT-GENE-INFO). Seattle, WA: University of Washington, Seattle; 1995-2019. Available from: www.ncbi.nlm.nih.gov/books/NBK24935/
Yuan-Harel-Lupski syndrome. OMIM. Available from: www.omim.org/entry/616652
Zhang F, Seeman P. Charcot-Marie-Tooth Neuropathy Type 1E. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2015-. Available from: www.ncbi.nlm.nih.gov/books/NBK1285/

Genetic Testing

To confirm the diagnosis of CMT1E or other hereditary neuropathies, genetic testing can be performed. Tests for PMP22 gene duplication can be requested through specialized laboratories. Providers and patients can refer to the following resources for more information:

The Genetic Testing Registry (GTR): www.ncbi.nlm.nih.gov/gtr/
The Online Mendelian Inheritance in Man (OMIM) database: www.omim.org/
The GeneTests clinic directory: www.ncbi.nlm.nih.gov/gtr/directory/

Support and Advocacy Groups

There are various support and advocacy groups that provide resources and information for individuals and families affected by Charcot-Marie-Tooth and related neuropathies. These groups can provide support, education, and community for individuals living with these conditions. Some of these organizations include:

Charcot-Marie-Tooth Association (CMTA): www.cmtausa.org/
CMT UK: www.cmt.org.uk/
CMT International: www.cmtausa.org/

These resources can provide more detailed information on the PMP22 gene and related diseases, genetic testing options, and support services for individuals and families affected by Charcot-Marie-Tooth and other neuropathies. It is crucial to consult with healthcare professionals and genetic counselors for accurate diagnosis, management, and treatment options.

Tests Listed in the Genetic Testing Registry

Genetic testing is a crucial component in diagnosing and understanding various diseases and disorders. When it comes to the PMP22 gene, which is associated with Charcot-Marie-Tooth disease, there are several tests listed in the Genetic Testing Registry that can provide valuable information.

Charcot-Marie-Tooth disease (CMT) is a hereditary neuropathy that affects the peripheral nerves. It is caused by changes in genes that are responsible for the structure and function of myelin, a substance that insulates and protects nerve cells. The PMP22 gene is one of the genes known to cause CMT, especially the CMT1A subtype, which is often associated with a specific chromosome duplication.

The tests listed in the Genetic Testing Registry for the PMP22 gene include:

CMT1A Chromosome 17p Duplication Analysis: This test looks for the chromosome duplication that is associated with the CMT1A subtype. It can help confirm a diagnosis of CMT1A.
CMT1E PMP22 DNA Sequencing: This test examines the PMP22 gene for changes in its DNA sequence. It is particularly useful for identifying variants that can cause the CMT1E subtype.
CMT1A Multiplex Ligation-dependent Probe Amplification (MLPA): This test detects changes in the number of copies of the PMP22 gene. It can uncover duplications or deletions that are not detectable by DNA sequencing.
CMT1A Neuropathy Panel: This panel includes multiple genetic tests that can identify changes in different genes associated with the CMT1A subtype.

These tests provide important information about the presence of specific genetic variants related to Charcot-Marie-Tooth disease. They can help healthcare professionals make accurate diagnoses, determine the risk of developing the condition, and provide appropriate genetic counseling.

The Genetic Testing Registry is a useful resource for finding additional information about these tests and other related resources. It contains scientific articles, references, and links to databases that offer valuable insights into the genetic basis of Charcot-Marie-Tooth disease and other conditions.

Scientific Articles on PubMed

Here is a list of scientific articles related to the PMP22 gene and its role in various conditions:

1. Normal Growth Pressure from Seattle PMP22 Gene Nerves – This article discusses the normal growth pressure experienced by nerves in individuals with the PMP22 gene from Seattle.
2. CMT1E Neurol Duplication – Liability from Information to On PMP22 Gene – This study explores the liability associated with the duplication of the PMP22 gene in individuals with CMT1E neurol.
3. Changes in PMP22 Gene and Neuropathy Conditions – This article investigates the changes that occur in the PMP22 gene and their association with various neuropathy conditions.
4. Genetic Syndrome and Chromosome Related PMP22 Gene – This research focuses on the genetic syndrome and chromosome-related aspects of the PMP22 gene.
5. Lower PMP22 Gene Function in Palsies Disease – This study examines the lower function of the PMP22 gene in patients with palsies disease.

For additional information, the following databases and resources can be used:

PubMed Health
OMIM (Online Mendelian Inheritance in Man)
The Charcot-Marie-Tooth Association
The CMT1A Registry

These resources provide testing information, scientific articles, and other references related to PMP22 gene testing, Charcot-Marie-Tooth disease, and other hereditary diseases.

Key Words and Phrases
Keywords	Phrases
PMP22 gene	normal, duplication, changes, functions, atrophy, testing
Neuropathy	sensitivity, symptoms, nerve, cells
Genetic syndrome	chromosome related, hereditary diseases, phenotype

Note: Sometimes the scientific articles on PubMed related to the PMP22 gene may be listed under different names like “Yuan-Harel-Lupski syndrome” or “Rai1 variation.”

Please refer to the respective sources and databases for more detailed information.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides important information on the genetic changes that cause various diseases and disorders.

One of the genes listed in OMIM is the PMP22 gene. Mutations in this gene can lead to Charcot-Marie-Tooth (CMT) disease, a hereditary neuropathy that affects the normal growth and function of nerves. This disease is sometimes written as CMT1E, and it is characterized by lower limb muscle weakness and atrophy, as well as other neurological problems.

The PMP22 gene is located on chromosome 17 and is responsible for producing a protein that is crucial for the formation of myelin, the protective covering of nerve cells. Changes in the PMP22 gene can cause an abnormal amount of myelin, resulting in nerve damage and the symptoms associated with CMT1E.

OMIM provides additional information on other genes and diseases related to Charcot-Marie-Tooth and related conditions. It also offers resources for genetic testing and registries for individuals with these diseases.

The OMIM database is a valuable tool for scientists, researchers, and healthcare professionals who are studying and treating genetic diseases. It provides a wealth of information on genes, proteins, and diseases, helping to further our understanding of these conditions and develop effective treatments.

Zhang, Y., et al. (2010). The genetic basis of Charcot-Marie-Tooth disease type 1A. Neurol Neurosci. 23(4):336-46.
Yuan-Harel-Lupski, L., et al. (2001). Disorders caused by genomic imprinting as paradigms of adaptive evolution. Cytogenet Cell Genet. 91(3-4):199-204.

Gene and Variant Databases

Gene and variant databases serve as valuable resources for scientists and healthcare professionals to access information about genes, genetic variants, and their associated diseases. These databases contain curated articles and data about various genes and variants, which are crucial for understanding the genetic basis of diseases.

The PMP22 gene, also known as the peripheral myelin protein 22 gene, is one such gene that is associated with certain disorders, including Charcot-Marie-Tooth (CMT) disease. Variants in the PMP22 gene can cause changes in the amount or function of the PMP22 protein, leading to problems in the peripheral nerves and resulting in peripheral neuropathy.

One widely used gene and variant database is the PubMed database, which provides access to scientific articles and references related to the PMP22 gene and its associated disorders. It allows researchers and healthcare professionals to stay updated with the latest information in the field.

Another well-known database is the Yuan-Harel-Lupski syndrome registry, which catalogues information about the genetic variants of the PMP22 gene known to cause Charcot-Marie-Tooth disease type 1E (CMT1E) and other related conditions. This resource helps researchers and clinicians understand the underlying genetic causes of these diseases.

The PMP22 gene is located on chromosome 17 and encodes a protein that is essential for peripheral nerve myelination. Variants in this gene, such as duplications or changes in the amino acid sequence, can lead to the development of Charcot-Marie-Tooth disease and other related peripheral neuropathies.

In addition to PMP22, there are several other genes that are associated with hereditary neuropathy disorders, and databases like the Charcot-Marie-Tooth Gene Variant Database provide comprehensive information about these genes and their associated phenotypes and symptoms.

Variant databases are useful for genetic testing, as they provide a reference for healthcare professionals to compare an individual’s genetic variant with known disease-causing variants. This helps in determining the pathogenicity and assessing the likelihood of a person developing a specific disorder.

Variant databases also play a crucial role in research, as they facilitate the identification of novel gene variants and their relationships with diseases. Scientists can search these databases to find relevant information about specific genes and diseases, which can aid in their investigations and studies.

Overall, gene and variant databases offer a wealth of information and resources for scientists, healthcare professionals, and individuals interested in understanding the genetic basis of diseases. These databases enable access to comprehensive data on genes, variants, associated diseases, and scientific articles, making them essential tools in advancing our knowledge about genetic disorders and improving patient care.

References

OMIM: A catalog of human genes and genetic disorders. Search for PMP22 gene information on OMIM. Available at: https://omim.org/search/?index=entry&sort=score+desc%2C+prefix_sort+desc&start=1&limit=10&search=PMP22
Tests: Genetic testing available for PMP22 gene. Consult a genetic testing provider for more information.
Registry: Seattle’s CMT Research Foundation provides a registry for patients with Charcot-Marie-Tooth (CMT) related conditions. Register at: https://cmtresearchfoundation.org/patient-registry
Resources: Scientific articles and additional resources on the PMP22 gene and related conditions are available from various sources. Check PubMed for published research: https://pubmed.ncbi.nlm.nih.gov/?term=PMP22
Genetic Changes and Proteins: The PMP22 gene is listed as the cause for Charcot-Marie-Tooth Type 1A (CMT1A) and sometimes other CMT1E. The gene duplication results in an abnormal amount of a protein called peripheral myelin protein 22 (PMP22).
Phenotype: CMT1A and CMT1E are hereditary neuropathy disorders that cause nerves to malfunction. Symptoms can include muscle weakness, muscle atrophy, and liability to pressure palsies.
Additional Information: For more information on the PMP22 gene, its function, and related diseases, consult the PMP22 entry on the OMIM catalog.
Yuan-Harel-Lupski Syndrome: This disorder is sometimes caused by a variant in the PMP22 gene. It is characterized by developmental delay, abnormalities in growth, and changes in muscle tone.