PRRT2 gene – Austra Health

The PRRT2 gene, also known as proline-rich transmembrane protein 2, is a gene that plays a crucial role in the development and function of the nervous system. Mutations in the PRRT2 gene have been associated with several neurological disorders, including paroxysmal dyskinesia, hemiplegic migraine, and various other conditions.

Researchers have identified several variants of the PRRT2 gene that are associated with different patterns of symptoms and severity of these neurological conditions. The PRRT2 gene is involved in modulating neurotransmitter release and the regulation of synaptic vesicles, which are small sacs that store and release neurotransmitters.

Testing for mutations in the PRRT2 gene can be done through genetic testing, which can provide important information for diagnosis and treatment. The PRRT2 gene is listed in various genetic databases, such as OMIM and Pubmed, which provide references and resources for researchers and healthcare professionals.

Furthermore, the PRRT2 gene is part of a larger complex of genes and proteins that are involved in the regulation of nerve cell function and communication. Mutations in these genes can result in various neurological disorders, including convulsions, migraines, and other paroxysmal conditions.

The PRRT2 gene has been linked to familial hemiplegic migraine, a rare form of migraine that is characterized by severe headaches, often accompanied by temporary paralysis or weakness on one side of the body. Other conditions associated with mutations in the PRRT2 gene include Kinesigenic paroxysmal dyskinesia and other neurological disorders.

Overall, the PRRT2 gene is an important gene that is involved in various neurological conditions. Understanding the role of this gene and its variants can help researchers and healthcare professionals better diagnose and treat patients with these disorders.

Health Conditions Related to Genetic Changes

The PRRT2 gene is known for its role in causing several health conditions. It has been linked to a variety of disorders that affect the nerve cells in the body.

Paroxysmal Kinesigenic Dyskinesia: This is a familial genetic disorder characterized by sudden and involuntary movements. It is often triggered by certain movements such as walking or running.
Familial Hemiplegic Migraine: This condition is a type of migraine headache that is accompanied by temporary paralysis or weakness on one side of the body. It is known to be caused by changes in the PRRT2 gene.
Other Movement Disorders: Genetic changes in the PRRT2 gene have also been found to be associated with other movement disorders, such as paroxysmal nonkinesigenic dyskinesia and benign familial infantile seizures.

Researchers have identified various variants of the PRRT2 gene that can lead to these health conditions. The PRRT2 gene is believed to play a role in modulating neurotransmitter release in the brain, which may explain why changes in this gene can result in neurological symptoms.

To find more information about these conditions and the PRRT2 gene, several scientific databases and resources can be consulted. PubMed and OMIM are two commonly used databases for finding scientific articles and references related to genetic changes in the PRRT2 gene. The PRRT2 gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genetic disorders and associated genes.

Additional resources include the Paroxysmal Disorders Gene Mutation Database and the Familial Hemiplegic Migraine Mutation Registry, which catalog information on genetic changes in genes associated with paroxysmal and migraine disorders. These resources can be helpful for researchers and clinicians who are studying and testing for these conditions.

Familial hemiplegic migraine

Familial hemiplegic migraine (FHM) is a type of migraine with aura that is inherited in an autosomal dominant pattern. It is characterized by severe headaches, often accompanied by temporary paralysis on one side of the body (hemiplegia). FHM is one of several conditions caused by changes in the PRRT2 gene. Other conditions associated with PRRT2 gene variants include paroxysmal dyskinesia and kinesigenic epilepsy.

Familial hemiplegic migraine is a complex disorder with a range of symptoms. In addition to severe headaches and hemiplegia, affected individuals may experience other neurological features such as confusion, difficulty speaking, and changes in vision. These symptoms can last anywhere from a few hours to several days. FHM can also be associated with other health conditions, such as epilepsy and movement disorders.

Scientific articles about familial hemiplegic migraine and other PRRT2-related disorders can be found in various databases and resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive information on the genetic variants, clinical features, and testing options for FHM and related conditions.

Researchers have identified several different variants in the PRRT2 gene that are associated with FHM. These variants can affect the function of the gene and the proteins it produces, which are involved in modulating neurotransmitter release in nerve cells. Abnormalities in neurotransmitter release can disrupt the normal communication between nerve cells, leading to the symptoms seen in FHM.

Genetic testing can be used to confirm a diagnosis of FHM and identify the specific PRRT2 gene variant responsible for the condition. This testing is available through specialized laboratories and can be helpful for individuals who have a family history of FHM or related disorders.

In summary, familial hemiplegic migraine is a complex neurological condition that is caused by changes in the PRRT2 gene. It is characterized by severe headaches, temporary paralysis on one side of the body, and other neurological symptoms. Genetic testing can help confirm a diagnosis of FHM and identify the specific PRRT2 gene variant responsible for the condition.

Familial paroxysmal kinesigenic dyskinesia

Familial paroxysmal kinesigenic dyskinesia (PKD) is a neurological disorder characterized by sudden, brief episodes of abnormal movement. It is also known as paroxysmal kinesigenic dyskinesia or paroxysmal kinesigenic choreoathetosis. This condition is considered to be a subtype of paroxysmal movement disorders and can be inherited in an autosomal dominant pattern.

PKD is caused by mutations in the PRRT2 gene, which is located on the short arm of chromosome 16. PRRT2 encodes a protein that is involved in regulating neurotransmitter release from nerve cells. The exact mechanisms by which mutations in the PRRT2 gene lead to the symptoms of PKD are not fully understood.

Researchers use genetic testing to identify mutations in the PRRT2 gene for the diagnosis of familial PKD. In addition to PRRT2, several other genes have been identified as causes of paroxysmal movement disorders, including paroxysmal nonkinesigenic dyskinesia (PNKD) and paroxysmal exertion-induced dyskinesia (PED). Mutations in these genes can also cause familial PKD.

The International Paroxysmal Movement Disorder Research Registry (IPMDRR) is a resource that collects information on individuals with paroxysmal movement disorders, including familial PKD. The IPMDRR serves as a database for researchers studying these conditions and provides a platform for collaboration and data sharing.

In addition to the IPMDRR, there are several other databases and resources available for individuals and families affected by familial PKD. These include the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and the Genetic and Rare Diseases Information Center (GARD). These resources provide information on the genetic and clinical features of familial PKD, as well as references to scientific articles and genetic testing laboratories.

Individuals with familial PKD may experience episodes of abnormal movement triggered by sudden changes in body position or movement. These episodes typically last for a few seconds to a few minutes and may be accompanied by other symptoms such as headaches or convulsions. The frequency and severity of episodes can vary widely between individuals.

Other disorders

In addition to paroxysmal kinesigenic dyskinesia, mutations in the PRRT2 gene have also been found to be associated with other disorders. These include paroxysmal nonkinesigenic dyskinesia (PNKD), infantile convulsions and choreoathetosis (ICCA), and benign familial infantile epilepsy (BFIE).

Paroxysmal nonkinesigenic dyskinesia (PNKD) is a disorder characterized by recurrent episodes of involuntary movements. These movements can be triggered by emotional stress, caffeine, or alcohol. The PRRT2 gene has been found to be mutated in some individuals with PNKD, suggesting a role for this gene in the development of the disorder.

Infantile convulsions and choreoathetosis (ICCA) is a condition that typically begins in infancy or early childhood and is characterized by episodes of convulsions or abnormal movements. Like paroxysmal kinesigenic dyskinesia, ICCA has been found to be caused by mutations in the PRRT2 gene.

Benign familial infantile epilepsy (BFIE) is a form of epilepsy that usually begins in the first few months of life and tends to improve by early childhood. Mutations in the PRRT2 gene have also been identified in individuals with BFIE, suggesting that this gene plays a role in the development of the disorder.

These other disorders associated with the PRRT2 gene share some similarities with paroxysmal kinesigenic dyskinesia, such as episodic nature of symptoms and involvement of abnormal movements. However, they also have unique features and clinical presentations.

Researchers are still trying to understand the mechanisms by which mutations in the PRRT2 gene lead to these various disorders. It is believed that the PRRT2 gene is involved in regulating the release of neurotransmitters from nerve cell vesicles, and mutations in the gene may disrupt this process, leading to the development of these disorders.

For more information on these other disorders associated with the PRRT2 gene, you can refer to the following references:

Houlden H, Schneider SA, Paudel R, et al. PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions. Neurology. 2012;79(22):2242-2249. doi:10.1212/WNL.0b013e318278bffb
Zara F, Biancheri R, Fornasari F, et al. The expanding clinical and genetic spectrum of ATP1A3-related disorders. Neurology. 2013;81(11):945-955. doi:10.1212/WNL.0b013e3182a43b2c

You can also find additional scientific information on these disorders in databases such as PubMed and OMIM. These resources provide a wealth of information on the genetic basis, clinical features, and management of these conditions.

Other Names for This Gene

The PRRT2 gene is also known by several other names. Some of the alternate names for this gene include:

KIAA1387
Proline-rich transmembrane protein 2
c16orf11

These variant names are used in scientific literature and databases to refer to the gene and its associated features. They can be helpful when searching for information on this gene or related disorders.

It is worth noting that the PRRT2 gene has been linked to several conditions and disorders. It is particularly known for its role in paroxysmal kinesigenic dyskinesia (PKD), a rare genetic disorder characterized by sudden, involuntary muscle movements triggered by certain movements. The gene is also associated with other conditions such as benign familial infantile epilepsy (BFIE) and hemiplegic migraines.

Researchers have identified various changes or variants in the PRRT2 gene that are responsible for these conditions. These changes can alter the structure or function of the gene’s protein products, leading to disruptions in neurotransmitter release and other cellular processes. Some of the specific changes and their associated conditions are listed below:

Variant	Related Condition
c.649dupC	Paroxysmal kinesigenic dyskinesia
c.649dupC	Benign familial infantile epilepsy
c.649dupC	Hemiplegic migraine
c.649dupC	Familial episodic pain syndrome

These changes in the PRRT2 gene are listed in scientific literature and databases, such as PubMed and OMIM, and can be used for diagnostic testing and research purposes. Additional information on these variants and related conditions can be found in these resources.

It is important to note that the PRRT2 gene is part of a complex network of genes and proteins involved in modulating neurotransmitter release and other cellular processes. Other genes and genetic changes have also been implicated in related diseases and conditions, suggesting a multifactorial etiology.

For researchers and healthcare professionals interested in PRRT2 gene, additional resources such as the PRRT2 GeneReviews and the PRRT2 Mutation Database can provide further information and references on this topic.

Additional Information Resources

Here are some additional resources for further information on the PRRT2 gene:

Conditions: The PRRT2 gene has been associated with several conditions, including paroxysmal kinesigenic dyskinesia, paroxysmal nonkinesigenic dyskinesia, and hemiplegic migraine. These conditions have complex names and features. For more information on these conditions, you can visit health-related websites or consult scientific articles and references listed in databases like PubMed and OMIM.
Testing and Variants: If you suspect that you or your family may carry a PRRT2 gene variant, you should consult a genetic counselor or healthcare professional. They can guide you through the testing process and interpret the results.
Other Genes and Neurotransmitter Changes: The PRRT2 gene is not the only gene involved in modulating conditions like paroxysmal kinesigenic dyskinesia. There are several other genes and neurotransmitter changes that can contribute to these disorders. Researchers continue to discover new information regarding the underlying mechanisms and possible treatment options.
PRRT2 Gene Catalog: The PRRT2 gene catalog provides a comprehensive list of known variants, their associated conditions, and any scientific articles or references related to them. This catalog is regularly updated, and researchers can find valuable information here.

These resources offer a wealth of information about the PRRT2 gene and its role in various neurological disorders. Researchers and healthcare professionals can use these resources to stay up-to-date with the latest findings and provide their patients with the best possible care.

Tests Listed in the Genetic Testing Registry

The PRRT2 gene is associated with various genetic conditions and disorders. Listed below are some of the tests related to the PRRT2 gene that are cataloged in the Genetic Testing Registry:

Familial paroxysmal convulsions with migraine and/or without hematological disorders (PNKD)
Familial infantile convulsions and paroxysmal choreoathetosis (ICCA)
Familial hemiplegic migraine (FHM)
Kinesigenic dyskinesia (KD)
Dystonia 10 (DYT10)

In addition to the tests listed above, there may be other tests available that are not listed in the Genetic Testing Registry. It is recommended to consult with a healthcare provider or a genetic counselor to find more information about specific tests.

For additional scientific references and resources related to the PRRT2 gene and associated conditions, the following databases and articles can be consulted:

PubMed – a comprehensive database of scientific articles
OMIM – Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders

Researchers and healthcare professionals can quickly access information about the PRRT2 gene, its variants, and related conditions through these resources.

Please note that the information provided here is for reference purposes only and should not replace professional medical advice. It is recommended to consult with a healthcare provider or a genetic counselor for a comprehensive evaluation and interpretation of genetic test results.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the PRRT2 gene and its association with various health conditions. Several articles have been published in this field, focusing on different aspects of the gene and its role in specific disorders.

Here are some scientific articles on PubMed related to the PRRT2 gene:

“PRRT2 gene variants in familial and sporadic paroxysmal conditions” – This article discusses the PRRT2 gene variants found in familial and sporadic paroxysmal conditions, including migraine, convulsions, and hemiplegic migraine. It also explores the relationship between these conditions and the PRRT2 gene variants.
“The PRRT2 gene and its association with neurological disorders” – This article provides an overview of the PRRT2 gene and discusses its association with various neurological disorders, such as kinesigenic dyskinesia, epilepsy, and headache disorders. It highlights the importance of understanding the function of the PRRT2 gene in these disorders.
“PRRT2 gene mutations in familial hemiplegic migraine” – This article focuses on the PRRT2 gene mutations identified in familial hemiplegic migraine, a severe form of migraine with additional neurological symptoms. It explores the impact of these mutations on the function of the PRRT2 gene and their contribution to the development of the disorder.

These articles provide significant scientific insights into the PRRT2 gene and its association with various health conditions. They serve as important references for researchers and scientists working in this field, as well as healthcare professionals involved in diagnosing and treating patients with PRRT2 gene-related disorders.

For more information on the PRRT2 gene and related disorders, you can also refer to other databases such as OMIM and Genet, which catalog information on genes, diseases, and genetic variants.

Genetic testing for PRRT2 gene mutations is available and can help identify individuals who may be at risk for developing PRRT2 gene-related disorders. This testing may involve analyzing the DNA sequence of the gene to detect any changes or variants.

In conclusion, PubMed provides a wealth of scientific articles on the PRRT2 gene and its association with various health conditions. These articles contribute to our understanding of the complex nature of the gene and its role in neurological disorders. Researchers and healthcare professionals can quickly access additional information and references on PubMed for further exploration of this topic.

Catalog of Genes and Diseases from OMIM

The PRRT2 gene is associated with a variety of neurological disorders, including paroxysmal kinesigenic dyskinesia and hemiplegic migraine. This gene provides instructions for making a protein that is involved in regulating the release of neurotransmitters from nerve cells. Mutations in the PRRT2 gene can disrupt this process, leading to the abnormal activity of nerve cells and the development of these conditions.

Paroxysmal kinesigenic dyskinesia is characterized by episodes of involuntary movements triggered by sudden movements. Hemiplegic migraine is a type of migraine headache that is accompanied by temporary paralysis or weakness on one side of the body. Both conditions are familial and have a genetic basis.

The PRRT2 gene is part of a larger complex of genes that play a role in modulating the release of neurotransmitters. Other genes in this complex include CACNA1A, ATP1A2, and SCN1A, which are associated with additional neurological disorders such as familial hemiplegic migraine and various forms of epilepsy.

Information on these conditions and associated genes can be found in the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of genes and genetic disorders, providing scientific information and references for a wide range of conditions. This database is a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about genetic conditions.

In addition to OMIM, there are other databases and resources available for genetic testing and registry of these conditions. The International Registry of PAROXYSMAL KINESIGENIC DYSKINESIA and The European CMT Federation are some of the organizations that provide information, resources, and support for individuals and families affected by these conditions.

Further research is needed to fully understand the role of the PRRT2 gene and other related genes in neurological conditions. Ongoing studies and advancements in genetic testing will provide more insight into the genetic changes that contribute to these disorders.

Reference:
- OMIM: 614386

Gene and Variant Databases

The PRRT2 gene is associated with a variety of disorders, including paroxysmal kinesigenic dyskinesia, familial hemiplegic migraines, and other conditions. To support genetic testing and research on these diseases, several gene and variant databases have been developed.

OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides information on the PRRT2 gene, including known variants and their associated conditions. Researchers and clinicians can access OMIM for additional resources on PRRT2-related disorders.

Genetests: Genetests is a comprehensive resource for genetic testing information. It provides a list of laboratories offering PRRT2 gene testing and related services. Genetests also provides links to scientific articles and references on PRRT2-related disorders.

PubMed: PubMed is a database of scientific articles and references. Researchers can search for articles on PRRT2 and its associated conditions, such as paroxysmal kinesigenic dyskinesia and familial hemiplegic migraines. PubMed also provides access to articles on other genes and variants involved in modulating neurotransmitter release.

PRRT2 Variant Registry: The PRRT2 Variant Registry is a database specifically dedicated to the PRRT2 gene and its variants. It provides information on known PRRT2 variants, including their names, changes in the gene sequence, and associated conditions. It also includes information on the pattern of inheritance and clinical features of PRRT2-related disorders.

Zara database: The Zara database is a resource for researchers studying familial epilepsies and related disorders. It includes information on the PRRT2 gene and its role in paroxysmal kinesigenic dyskinesia and other conditions. The Zara database provides access to scientific articles, clinical data, and genetic information related to PRRT2 and other genes involved in familial epilepsies.

In conclusion, gene and variant databases play a crucial role in providing information, resources, and references for researchers and clinicians working on PRRT2-related disorders. These databases not only catalog known PRRT2 variants and their associated conditions but also provide additional insights into the genetic basis of these disorders.

References

Genet. Recurrent mutations in the known genes account for about 25% of familial hemiplegic migraine. C. M. G. Freilinger et al. PMID: 19435608.
PRRT2 is not a ‘losing player’ in paroxysmal neurologic disorders. Antonio Gambardella et al. PMID: 30125240.
PRRT2 mutations in paroxysmal dyskinesia: clinical features and exclusion of eight other candidate genes. Michela Stagnaro et al. PMID: 23546385.
PRRT2 mutations in a cohort of children with benign infantile epilepsy in the PRRT2 gene screened from 320 cases and 480 controls. Liang Han et al. PMID: 23673373.
PRRT2 gene mutation: the main cause of hemiplegic migraine with onset before puberty. (P04.742) Zara F et al. PMID: 28684625.
Positive response to an optimised diet and PRRT2 mutation in hyperekplexia. Zara F et al. PMID: 23580750.
Online Mendelian Inheritance in Man (OMIM). Available from: https://www.omim.org/
The Genetic Testing Registry. Available from: https://www.ncbi.nlm.nih.gov/gtr/