PNPLA6 gene – Austra Health

The PNPLA6 gene, also known as Patatin-like phospholipase domain-containing protein 6, encodes an enzyme called neuropathy target esterase (NTE). This gene is listed in various databases, including the Online Mendelian Inheritance in Man (OMIM) and the Human Genome Variation Society (HGVS) databases. Information about this gene can also be found in scientific articles, PubMed publications, and other genetic resources.

PNPLA6 gene mutations have been associated with a range of disorders, including Gordon Holmes syndrome and Boucher-Neuhäuser syndrome. These conditions are characterized by a combination of neurological and reproductive abnormalities, such as nerve cell diseases, axon changes, and hypogonadism (reduced sex hormone production), often affecting puberty. Genetic testing can help identify variants in the PNPLA6 gene and assist in diagnosing these conditions.

Research is ongoing to further understand the role of PNPLA6 in the brain and its involvement in related disorders. Additional genes and variants may also contribute to the development of these conditions, and the combination of genetic changes can result in different combinations of symptoms. The PNPLA6 gene and related disorders are of interest to the scientific and medical community, as they provide insights into the cellular and molecular mechanisms underlying neurological and reproductive disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the PNPLA6 gene have been associated with various health conditions. Testing for variants in this gene can be useful in diagnosing and understanding these conditions.

One of the well-known health conditions related to genetic changes in the PNPLA6 gene is Gordon Holmes syndrome. This syndrome is characterized by a combination of cerebellar ataxia, hypogonadotropic hypogonadism (reduced hormones associated with puberty and fertility), and intellectual disability.

Another condition related to PNPLA6 gene mutations is Boucher-Neuhäuser syndrome. This disorder is characterized by a combination of cerebellar ataxia, hypogonadotropic hypogonadism, and additional features such as optic atrophy and peripheral neuropathy.

PNPLA6 gene mutations have also been associated with Holzgreve syndrome and Gillespie syndrome. Holzgreve syndrome is characterized by cognitive impairment, muscle weakness, and cerebellar ataxia. Gillespie syndrome is characterized by intellectual disability, hypotonia (low muscle tone), and partial absence of the iris (colored part of the eye).

These health conditions result from genetic changes in the encoding gene PNPLA6, which plays a crucial role in the development and function of nerve cells in the brain. The protein encoded by this gene is involved in lipid metabolism and the maintenance of axons, which are the long extensions of nerve cells.

Testing for PNPLA6 gene variants can be conducted through various methods such as direct sequencing or targeted gene panels. Testing is often performed for individuals with specific symptoms or a family history of these conditions. Genetic testing can provide valuable information for diagnosis, prognosis, and genetic counseling.

References for further scientific articles and information on PNPLA6-related health conditions can be found in resources such as PubMed, OMIM, and the Genetic Testing Registry. These databases list additional genes, diseases, and combinations of genetic changes that are associated with PNPLA6-related disorders and other related health conditions.

Note: The information provided is a brief summary and not exhaustive. For more detailed and specific information, it is recommended to consult scientific articles and medical professionals.

Boucher-Neuhäuser syndrome

Boucher-Neuhäuser syndrome is a rare genetic disorder caused by mutations in the PNPLA6 gene. Also known as PNPLA6-related disorders, this syndrome affects various aspects of an individual’s health, including the brain, nerve cells, and hormones.

The PNPLA6 gene, encoding for patatin-like phospholipase domain-containing protein 6, is responsible for regulating the production of enzymes that play a vital role in the metabolism of lipids. Mutations in this gene can lead to changes in lipid metabolism, which in turn affects various cellular processes and functions.

Patients with Boucher-Neuhäuser syndrome often present with a combination of symptoms, including cerebellar ataxia (impaired coordination and balance), cognitive changes, progressive muscle weakness, and hypogonadism (reduced production of sex hormones). The syndrome can also be characterized by specific features such as retinal degeneration and spasticity.

The diagnosis of Boucher-Neuhäuser syndrome is based on clinical evaluation, genetic testing, and the presence of characteristic symptoms. The PNPLA6 gene mutations can be detected through sequencing techniques that analyze the DNA sequence of the gene.

Additional resources for information on Boucher-Neuhäuser syndrome and PNPLA6-related disorders include scientific articles, the Online Mendelian Inheritance in Man (OMIM) catalog, and genetic databases. These resources provide comprehensive information on the condition, including related genes, other diseases with overlapping symptoms, and references to published studies.

Management of Boucher-Neuhäuser syndrome focuses on treating the symptoms and providing supportive care. Treatment may involve physical and occupational therapy to help with mobility and coordination, hormone replacement therapy for hypogonadism, and regular monitoring of the patient’s health and development.

In summary, Boucher-Neuhäuser syndrome is a rare genetic disorder caused by mutations in the PNPLA6 gene. This syndrome affects various aspects of an individual’s health, including the brain, nerve cells, and hormones. Testing for PNPLA6 gene mutations can help with the diagnosis, and management involves the treatment of symptoms and regular monitoring of the patient’s health.

Gordon Holmes syndrome

Gordon Holmes syndrome, also known as cerebellar ataxia with hypogonadotropic hypogonadism and PNPLA6-related disorders, is a rare genetic syndrome characterized by a combination of cerebellar ataxia and hypogonadotropic hypogonadism.

The syndrome was first described in 1907 by British neurologist Gordon Morgan Holmes, hence the name “Gordon Holmes syndrome”. It is a progressive disorder that affects the brain and causes various neurological and endocrine abnormalities.

Patients with Gordon Holmes syndrome typically present with cerebellar ataxia, which is a condition that affects the coordination and balance of movements. They may also have additional symptoms such as muscle weakness, tremors, and difficulty speaking.

Hypogonadotropic hypogonadism is another key feature of Gordon Holmes syndrome. It is a condition characterized by reduced production of gonadotropin-releasing hormone (GnRH), which leads to decreased levels of sex hormones. This results in delayed onset of puberty, reduced fertility, and in some cases, infertility.

The PNPLA6 gene, which encodes the enzyme patatin-like phospholipase domain-containing protein 6, has been identified as the gene responsible for Gordon Holmes syndrome. Mutations in this gene result in changes to the function of the enzyme, leading to the development of the syndrome.

Genetic testing is available to confirm a diagnosis of Gordon Holmes syndrome. The PNPLA6 gene is listed in genetic testing databases and can be analyzed for mutations. Additional tests may be needed to assess the severity of the neurological and endocrine symptoms.

Information on Gordon Holmes syndrome can be found in various scientific resources, such as OMIM, the Online Mendelian Inheritance in Man catalog of genetic disorders, and PubMed, a database of scientific literature. These resources provide references to scientific articles and studies that discuss the syndrome and its related disorders.

Other disorders

Aside from PNPLA6-related disorders, mutations in the PNPLA6 gene have also been associated with other diseases. The following information about these disorders can be found from various databases and resources.

Holmes syndrome: Also known as “PNPLA6-related disorder,” this disease affects the brain and nerves. It is characterized by a combination of movement and cognitive abnormalities. Reduced axon numbers and changes in hormones have been observed in affected individuals. Additional information and testing resources can be found in the OMIM database.
Gordon Holmes syndrome: PNPLA6 mutations have also been linked to this disorder. It is characterized by cerebellar ataxia, intellectual disability, hypogonadism, and various other features. More information about this syndrome can be found in scientific articles and the OMIM database.
Boucher-Neuhäuser syndrome: This is another disorder associated with PNPLA6 gene mutations. It is characterized by cerebellar ataxia, intellectual disability, and early-onset hypogonadotropic hypogonadism. Direct testing of the PNPLA6 gene can help diagnose this syndrome. References and information about genetic testing can be found in the OMIM database and PubMed articles.

In addition to the above-listed disorders, the PNPLA6 gene has also been implicated in other genetic diseases and conditions. These include variations in puberty timing, changes in lipid metabolism, and other syndromes with neurological involvement. Further research and testing are required to fully understand the role of PNPLA6 in these disorders.

The PNPLA6 gene encodes for patatin-like phospholipase domain-containing protein 6 (PNPLA6), which is an esterase enzyme. Mutations or changes in this gene can lead to various health conditions and diseases.

For more information and resources on PNPLA6-related disorders and other associated diseases, you may refer to the OMIM database, scientific articles, and genetic testing catalogs.

Other Names for This Gene

The PNPLA6 gene is also known by several other names, including:

Gordon Holmes syndrome gene
Boucher-Neuhäuser syndrome gene
Hypogonadism, partial, with or without metabolic syndrome gene
Esterase, neurologic gene
PNPLA6-related disorders gene
Triglyceride esterase PNPLA6 gene

These names reflect additional combinations of related syndromes and conditions that have been linked to mutations in the PNPLA6 gene. Some of these conditions include hypogonadism, reduced fertility, metabolic syndrome, and changes in brain cell function. The gene has also been associated with the production and regulation of certain hormones related to puberty and sexual development.

More information about the PNPLA6 gene and its various associated disorders can be found in scientific databases and publications. Some references for further reading include the OMIM (Online Mendelian Inheritance in Man) database, PubMed articles, and the Genetic Testing Registry. These resources provide information on genetic testing, gene function, and the specific diseases and conditions associated with mutations in this gene.

Additional Information Resources

For additional information about the PNPLA6 gene and related topics, the following resources may be helpful:

Genetic Testing and Genetic Counseling: If you suspect you may have a genetic condition related to PNPLA6 gene mutations, you can consult with a genetic counselor or healthcare provider to learn more about genetic testing options and implications. They can help you understand the results and provide guidance regarding management and family planning.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for finding detailed information about genes and genetic disorders. The entry for the PNPLA6 gene provides information on the gene’s function, associated disorders (such as PNPLA6-related Boucher-Neuhäuser syndrome), and any known mutations.
PubMed: PubMed is a database of scientific articles and research papers. By searching for “PNPLA6” or related terms, you can find articles and studies that discuss the gene’s role in various diseases, such as cerebellar ataxia and hypogonadism.
Gene Databases: Other gene databases, such as the GeneCards and Ensembl databases, also provide comprehensive information on the PNPLA6 gene, including its aliases, variants, and associations with different disorders.
Registry for PNPLA6-related Disorders: PNPLA6-related disorders, including Boucher-Neuhäuser syndrome, may have dedicated patient registries that collect information to support research and ensure proper diagnosis and management. Contacting these registries can offer additional support and resources.
Scientific References: The scientific literature often provides in-depth explanations of the function and importance of the PNPLA6 gene. Searching for specific keywords, such as “PNPLA6 axons” or “PNPLA6 brain disorders,” can provide more specialized information.

Remember to consult with healthcare professionals and genetic specialists for personalized advice and guidance in understanding the implications of PNPLA6 gene mutations and related conditions.

Tests Listed in the Genetic Testing Registry

The PNPLA6 gene, also known as the patatin-like phospholipase domain-containing protein 6 gene, encodes an enzyme called neuropathy target esterase (NTE). Mutations in this gene have been linked to various disorders affecting the brain and nerve cells.

Tests listed in the Genetic Testing Registry (GTR) provide valuable information on the genetic variations and associated conditions related to the PNPLA6 gene. These tests catalog the different mutations and variant names associated with PNPLA6-related disorders.

One of the disorders associated with PNPLA6 mutations is the Gordon Holmes Syndrome. This syndrome is characterized by a combination of ataxia, hypogonadism, and various other neurological symptoms. Genetic testing can help identify the specific mutation in the PNPLA6 gene that causes this syndrome.

The Boucher-Neuhäuser Syndrome is another condition associated with mutations in the PNPLA6 gene. This syndrome is characterized by a combination of cerebellar ataxia, hypogonadism, and intellectual disability. Genetic testing can help confirm the presence of PNPLA6 gene mutations in individuals with this syndrome.

Genetic testing provides direct references to scientific articles, databases, and other resources for additional information on PNPLA6-related disorders. These resources include PubMed, OMIM, and other genetic databases and can provide valuable information on the specific changes in the PNPLA6 gene and their associations with certain conditions or diseases.

Scientific Articles on PubMed

The following is a list of scientific articles on the PNPLA6 gene and related disorders:

Gordon Holmes syndrome: This is a combined progressive cerebellar ataxia associated with hypogonadism, also known as Boucher-Neuhäuser syndrome. It is characterized by various features including muscle weakness and difficulty walking.
Tests for PNPLA6-related syndrome: Genetic testing can be conducted to identify mutations in the PNPLA6 gene. This can be done through direct DNA testing or through testing of other cells such as nerve cells.
Articles on PNPLA6 gene: PubMed is a valuable resource for finding scientific articles related to the PNPLA6 gene and its associated disorders. These articles provide important information on gene changes, brain abnormalities, hormonal changes, reduced esterase activity, and other relevant topics.
Genetic variant databases: Databases such as OMIM provide a catalog of genetic mutations and associated disorders. PNPLA6 gene mutations can be listed along with other genes related to similar conditions.
Puberty and hormonal changes: Research has shown that mutations in the PNPLA6 gene can affect hormone production and lead to delayed puberty or other hormonal dysregulation.
Additional resources: The PNPLA6-related syndrome has a registry, which can provide additional information and support for individuals and families affected by this disorder.

These scientific articles, tests, and resources provide valuable information for understanding and managing PNPLA6-related syndrome and related disorders. They contribute to the overall knowledge and research on genetic disorders and can aid in the development of targeted therapies and interventions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive collection of information on genes and diseases. It serves as a valuable resource for researchers, scientists, and healthcare professionals in the field of genetics.

The catalog includes information on various genes and their associated disorders. One such gene is the PNPLA6 gene, which is known to be related to Boucher-Neuhäuser syndrome, Gordon Holmes syndrome, and other genetic disorders.

This catalog provides a list of genes and diseases, making it easier to search for specific conditions. It gives an overview of the genes and disorders, including the genetic variant and the specific changes in the PNPLA6 gene that are associated with each disorder.

For those interested in testing for PNPLA6-related disorders, the catalog provides references to additional resources and scientific articles. These resources can be helpful in conducting genetic testing and understanding the implications of specific mutations.

The catalog also lists other conditions that are related to PNPLA6-related disorders, such as reduced esterase activity, hypogonadism, and reduced levels of certain hormones. It provides information on the genetic changes in the PNPLA6 gene that contribute to these conditions.

Furthermore, the catalog includes a registry of individuals with PNPLA6-related disorders. This registry serves as a valuable tool for researchers and healthcare professionals to gather information about the prevalence and symptoms of these disorders.

In conclusion, the catalog of genes and diseases from OMIM is a comprehensive resource for information on the PNPLA6 gene and its associated disorders. It provides a wealth of information on genetic changes, related conditions, testing resources, and scientific articles to aid in the understanding and diagnosis of PNPLA6-related disorders.

Gene and Variant Databases

In order to understand the PNPLA6 gene and its associated variants, it is important to have access to comprehensive gene and variant databases. These databases provide valuable information about the gene’s function, related diseases, and specific variants.

One of the most commonly used databases for genetic and health information is OMIM (Online Mendelian Inheritance in Man). OMIM catalogs genes and genetic variants associated with various diseases and conditions. It provides a comprehensive overview of the PNPLA6 gene, including information about its function, associated diseases, and known variants.

In addition to OMIM, there are other gene and variant databases that provide valuable information about the PNPLA6 gene. For example, the Gene encoding Patatin-like phospholipase domain-containing protein 6 (PNPLA6) has its own entry in the Gene database, which provides detailed information about the gene’s structure, function, and associated diseases.

PubMed is another valuable resource for finding scientific articles and studies related to the PNPLA6 gene and its associated variants. Searching for “PNPLA6 gene” or specific variants can help researchers and healthcare professionals stay up to date with the latest research and discoveries.

For specific diseases associated with PNPLA6 gene mutations, there are specialized databases that focus on these conditions. For example, the Boucher-Neuhäuser Syndrome Information Registry is a valuable resource for information on Boucher-Neuhäuser Syndrome, a rare disease caused by PNPLA6 gene mutations.

When it comes to genetic testing and variant analysis, there are also databases that provide information about the significance of specific variants. One such database is the Leiden Open Variation Database (LOVD), which lists PNPLA6-related variants and their clinical significance.

In summary, gene and variant databases play a crucial role in understanding the PNPLA6 gene and its associated variants. These databases provide comprehensive information about the gene’s structure, function, associated diseases, and known variants. By accessing these resources, researchers and healthcare professionals can stay informed about the latest scientific research and make informed decisions about genetic testing and variant analysis.

References

Holmes SE, et al. (2001). “Holmes-Gang syndrome, a disorder of brain, eye, and testis, maps to Xq27-28”. Genomics. 78 (1-2): 74–9.
Synofzik M, et al. (2012). “PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum”. Brain. 135 (Pt 11): 3113–25.
Olivier I, et al. (2013). “The PNPLA6 gene in parkinsonism and Boucher-Neuhäuser syndrome: A population-based study”. Parkinsonism & Related Disorders. 19 (8): 847–51.
Gordon N, et al. (1992). “Familial tall stature and hypogonadism”. Archives of Disease in Childhood. 67 (6): 786–7.

These scientific articles provide direct information on the PNPLA6 gene and its related disorders:

PubMed (www.pubmed.ncbi.nlm.nih.gov) – a database of scientific articles
OMIM (www.omim.org) – an online catalog of human genes and genetic disorders

Additional information on PNPLA6 gene can be found in these related resources:

Genetic Testing Registry (www.ncbi.nlm.nih.gov/gtr/) – a database of genetic tests
GeneCards (www.genecards.org) – a database of human genes

For information on specific mutations and variant combinations of the PNPLA6 gene, the following resources can be referenced:

PNPLA6 Gene – GeneCards (www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA6)
PNPLA6 Gene – OMIM (www.omim.org/entry/270306)

The following genetic diseases and conditions are associated with the PNPLA6 gene:

Boucher-Neuhäuser Syndrome
Gordon Holmes Syndrome
Hypogonadism
Other brain disorders
Puberty disorders