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PAFAH1B1 gene

The PAFAH1B1 gene, also known as LIS1, is a genetic sequence that plays an important role in the development and function of the human brain. Mutations or changes in this gene can cause a variety of neurological conditions, including lissencephaly and subcortical band heterotopia, also known as Miller-Dieker syndrome.

Mutations in the PAFAH1B1 gene can result in a range of symptoms and features, including intellectual disability, seizures, and developmental delays. These mutations can be inherited from a parent or occur spontaneously in an individual. Testing for mutations in the PAFAH1B1 gene can be done through genetic testing, which can help diagnose these conditions and guide treatment options.

The PAFAH1B1 gene codes for the alpha subunit of the PAFAH1B1 protein, also known as LIS1, which is essential for the proper formation and function of microtubules in neurons. Microtubules are critical for various cellular processes in the brain, including neuronal migration and the organization of brain structures.

For further information on the PAFAH1B1 gene, scientific articles, and molecular changes associated with this gene, resources such as PubMed, OMIM, and genetic databases can provide additional references and information. The PAFAH1B1 gene is an important focus of research in understanding the underlying causes of neurological diseases and the development of potential therapeutic strategies.

Genetic changes in the PAFAH1B1 gene have been associated with various health conditions. Here’s a list of some known diseases that can be caused by alterations in this gene:

  • Miller-Dieker Syndrome: This is a rare genetic disorder characterized by lissencephaly (smooth brain), facial abnormalities, and developmental disabilities.
  • Isolated Lissencephaly Sequence: Also known as “LIS1 syndrome,” this condition is characterized by a smooth brain surface and severe intellectual disability.
  • Subcortical Band Heterotopia: This disorder causes abnormal migration of neurons during brain development, resulting in a characteristic band of neurons lining the brain’s surface.

These conditions are complex and can involve various other genes and genetic changes. To gather more information on the health conditions related to PAFAH1B1 gene variants, you can refer to scientific articles available in resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and other genetic databases. Testing for these conditions can be conducted through specialized genetic tests that target the PAFAH1B1 gene or other associated genes.

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In the scientific literature, Miller-Dieker Syndrome is often referred to as “MDS” or “LIS syndrome.” Some researchers have also used terms like “PAFAH1B subunit” or “LIS1 protein” to describe specific parts of the PAFAH1B1 gene or its protein product.

References:

– Miller-Dieker Syndrome. In: GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1189/

– Wynshaw-Boris, A. Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development. Clin Genet. 2007 Sep;72(3):296-304. doi: 10.1111/j.1399-0004.2007.00881.x. PMID: 17718852.

Isolated lissencephaly sequence

The Isolated Lissencephaly Sequence (ILS), also known as type 1 Lissencephaly, is a neurological disorder characterized by the absence or reduction of the folds and grooves in the brain’s surface. It is caused by abnormalities in the PAFAH1B1 gene. This gene provides instructions for making a protein called platelet-activating factor acetylhydrolase isoform 1B subunit alpha (PAFAH1B1). Heterotopia, a condition where clusters of neurons are located in the wrong part of the brain, is one of the main features of ILS.

Isolated lissencephaly sequence is different from other conditions known as lissencephaly. Unlike other forms of lissencephaly, ILS does not have any additional brain abnormalities or organ involvement. It is characterized by a smooth brain surface and a subcortical band of neurons, called a double cortex, is often observed.

The PAFAH1B1 gene is related to lissencephaly and is listed in various genetic databases and registries. The molecular changes in this gene can cause symptoms associated with ILS.

Scientific articles and information about ILS can be found on databases, such as PubMed and OMIM. The Miller-Dieker Syndrome, which is a severe form of lissencephaly, is part of the ILS spectrum.

Tests for the PAFAH1B1 gene and other genes related to lissencephaly can be done to confirm the diagnosis of ILS. These genetic tests can identify changes in the genes that cause lissencephaly.

Children with ILS usually have developmental delay, intellectual disability, and seizures. Other features may include muscle weakness, difficulty swallowing, and vision and hearing problems.

See also  DDX11 gene

Additional resources and support for individuals with ILS and their families can be found through health organizations and support groups that focus on lissencephaly and related conditions.

Summary of Isolated Lissencephaly Sequence
Features Causes/Related Genes Diagnostic Tests
Smooth brain surface, subcortical band of neurons (double cortex) Abnormalities in the PAFAH1B1 gene Genetic testing for PAFAH1B1 and related genes
Developmental delay, intellectual disability, seizures Miller-Dieker Syndrome (part of ILS spectrum) Genetic tests for lissencephaly-related genes
Heterotopia (clusters of neurons in the wrong part of the brain)
Muscle weakness, swallowing difficulties, vision and hearing problems

Subcortical band heterotopia

Subcortical band heterotopia is a neurodevelopmental disorder characterized by changes in the migration of neurons during brain development. It is also known as Miller-Dieker syndrome or lissencephaly type 1, and it is listed in the OMIM database and other genetic resources under the name “PAFAH1B1 gene” or “PAF-AH1B1 gene.”

The PAFAH1B1 gene, also known as LIS1, is one of the genes involved in the development of subcortical band heterotopia. The gene codes for a subunit of a protein called platelet-activating factor acetylhydrolase (PAFAH1B1), which plays a role in the formation of microtubules, a part of the cellular structure. Mutations in the PAFAH1B1 gene can result in a disruption of normal neuronal migration, leading to the formation of subcortical band heterotopia.

Subcortical band heterotopia is usually associated with the signs and symptoms of lissencephaly, including intellectual disability, developmental delay, seizures, and other neurological abnormalities. However, there are cases of isolated subcortical band heterotopia without other associated features.

Diagnosis of subcortical band heterotopia can be made through genetic testing, such as sequencing of the PAFAH1B1 gene. Additional tests, such as brain imaging and clinical examination, may be necessary to confirm the diagnosis and assess the severity of the condition.

For more information on subcortical band heterotopia, related genes, and associated conditions, you can refer to scientific articles, databases like OMIM and PubMed, and other resources available in the field of molecular genetics and neurology.

Miller-Dieker syndrome

Miller-Dieker syndrome is a genetic disorder caused by changes in the PAFAH1B1 gene, also known as the LIS1 gene. It is characterized by a particular set of signs and symptoms including lissencephaly, subcortical band heterotopia, and intellectual disability.

Lissencephaly refers to the smooth or absent folds and grooves in the brain’s surface. In Miller-Dieker syndrome, the brain has a smooth appearance due to the lack of normal folds. Subcortical band heterotopia is an additional layer of neurons that form a band below the surface of the brain, instead of being in their usual location.

The changes in the PAFAH1B1 gene usually occur sporadically, meaning they are not inherited from the parents. However, in some cases, the syndrome can be inherited in an autosomal recessive manner. The PAFAH1B1 gene provides instructions for making a subunit of an enzyme called platelet-activating factor acetylhydrolase (PAFAH), which is involved in the development of neurons and the formation of the brain’s structure.

The signs and symptoms of Miller-Dieker syndrome can vary in severity. Some individuals may have only mild developmental delays or learning disabilities, while others may have more severe intellectual disability and motor impairments.

Diagnosis of Miller-Dieker syndrome can be confirmed through genetic testing, which can detect changes in the PAFAH1B1 gene. Other tests, such as brain imaging studies, may be performed to further evaluate the brain abnormalities associated with the syndrome.

There is currently no cure for Miller-Dieker syndrome. Treatment focuses on managing the symptoms and complications associated with the disorder. Early interventions, such as physical therapy, occupational therapy, and speech therapy, can help individuals with developmental delays and motor impairments.

Resources for Miller-Dieker syndrome:
Scientific Articles – Information on Miller-Dieker syndrome can be found in scientific articles from peer-reviewed journals. PubMed is a popular database for accessing scientific articles.
Catalog of Genetic Diseases – The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic diseases, including Miller-Dieker syndrome.
Testing and Registry – Genetic testing can be done to confirm the diagnosis of Miller-Dieker syndrome. The Miller-Dieker Syndrome Foundation offers information on testing and a registry for affected individuals.
Related Conditions – Miller-Dieker syndrome is closely related to other conditions featuring lissencephaly and subcortical band heterotopia. Additional information on these related conditions can be found in the resources listed above.
Genetic Health Resources – Various organizations, such as genetic counseling centers and support groups, can provide information and resources for individuals and families affected by genetic disorders, including Miller-Dieker syndrome.

References:

  1. Wynshaw-Boris, A. (2007) Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development. Clin. Genet. 72: 296-304.
  2. Parrini, E. et al. (2006) Normal Development and Epilepsy in Mice Lacking the Aristaless-Related Homeobox Gene Arx. Hum. Mol. Genet. 15(10): 1683–1690.
  3. Molecular Biology of Chromosome 17 and Its Diseases, Neuron Volume 23, Issue 3, 273-285, June 1999
See also  SLC4A1 gene

Other Names for This Gene

  • pafah1b
  • lissencephaly, part of
  • catalog, genetic
  • Miller-Dieker syndrome
  • neurol, diseases associated with pafah1b gene
  • tests, causes and health for PAFAH1B1 gene
  • variant, subunit of PAFAH1B1 gene
  • testing, symptoms and molecular features of PAFAH1B1 gene
  • information related to pafah1b gene
  • for additional information on PAFAH1B1 gene
  • other names for pafah1b gene
  • sequence, subcortical band heterotopia
  • OMIM database for PAFAH1B1 gene
  • known genes from the PAFAH1B1 gene complex
  • articles and references for PAFAH1B1 gene
  • resources and conditions associated with PAFAH1B1 gene
  • microtubules and PAFAH1B1 gene
  • isolated lissencephaly sequence on PAFAH1B1 gene
  • scientific and medical tests for PAFAH1B1 gene
  • Wynshaw-Boris syndrome and PAFAH1B1 gene
  • normal and abnormal signs of PAFAH1B1 gene
  • genes and changes in PAFAH1B1 gene
  • PubMed articles on PAFAH1B1 gene
  • list of databases and sequence registries for PAFAH1B1 gene
  • genes called pafah1b and their gene changes

Additional Information Resources

The PAFAH1B1 gene, also known as the LIS1 gene, is associated with a number of genetic conditions and neurological disorders. Here are some additional resources for more information:

  • Online Databases and Registries: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic conditions and genes associated with PAFAH1B1. Other databases like PubMed and GenBank offer scientific articles, research papers, and genetic sequence data for further exploration.
  • Related Articles and Scientific Publications: Numerous scientific articles and publications have been published on PAFAH1B1 and its associated conditions. These articles can provide valuable insights and in-depth information on the gene and its role in various health conditions.
  • Testing and Diagnostic Resources: Diagnostic tests like sequencing and genetic testing can help identify mutations or changes in the PAFAH1B1 gene. Testing laboratories and medical centers offer these tests as part of their services.
  • Conditions and Disorders: PAFAH1B1 mutations are linked to several conditions and disorders, including lissencephaly and Miller-Dieker syndrome. Understanding the signs, symptoms, and molecular basis of these conditions can provide a deeper understanding of the gene’s role.
  • Other Genes and Molecular Pathways: PAFAH1B1 is part of a complex molecular pathway involved in neuronal development and the proper functioning of microtubules. Exploring other genes and molecules within this pathway can provide a broader perspective on the gene’s significance.

Additional resources and information can be found through the mentioned databases, medical literature, and research institutions involved in the study of PAFAH1B1 and related genes.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides sequence information on genes and genetic tests for a variety of diseases and conditions. In relation to PAFAH1B1 gene, there are tests listed in the GTR for:

  • Lissencephaly, also known as Miller-Dieker syndrome
  • Subcortical band heterotopia

These tests can help identify changes in the PAFAH1B1 gene that may be the cause of these conditions. Sequencing of the PAFAH1B1 gene can provide valuable information about the genetic variants that may contribute to the development of these disorders.

In addition to the PAFAH1B1 gene, the GTR lists tests for other genes associated with Miller-Dieker syndrome and other related conditions. The GTR also provides references to scientific articles and databases that contain further information on the genetic causes and symptoms of these disorders.

If you are interested in learning more about the tests listed in the GTR for PAFAH1B1 gene or related genes, it is recommended to consult the GTR database as well as other resources such as PubMed, OMIM, and other genetic testing catalogs. These resources can provide more detailed information on the specific tests available, their names, and the associated genes and conditions.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the causes, signs, and molecular mechanisms of the PAFAH1B1 gene. This gene is located in the 17p13.3 region and is associated with a condition known as lissencephaly, or Miller-Dieker syndrome. Lissencephaly is a disorder characterized by a smooth brain surface instead of the normal folds and grooves. It typically leads to severe intellectual disability and other neurological symptoms.

The PAFAH1B1 gene, also called the LIS1 gene, codes for the alpha subunit of platelet-activating factor acetylhydrolase 1B1. This enzyme is involved in the regulation of microtubules, which are important for the proper migration and organization of neurons in the developing brain. Changes in this gene can disrupt these processes and lead to the abnormal brain structure seen in lissencephaly.

Additional articles on PubMed provide information about other genes and conditions related to lissencephaly. One such gene is the DCX gene, which codes for a protein called doublecortin. Variants in the DCX gene are associated with X-linked lissencephaly and subcortical band heterotopia. These conditions also affect the migration and organization of neurons in the brain.

The Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR) are resources that provide additional information about genes, genetic testing, and related conditions. These resources list articles from scientific journals and provide references for further reading.

See also  PROC gene

In summary, scientific articles on PubMed provide valuable information about the molecular mechanisms of the PAFAH1B1 gene and its role in lissencephaly. They also explore other genes and conditions associated with abnormal brain development. Health professionals and researchers can use this information to better understand the causes and symptoms of lissencephaly and develop diagnostic tests and potential treatments for affected individuals.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides information on genes and their associated diseases. The catalog contains a wealth of information, including clinical descriptions, genetic changes, and references to scientific articles. One of the genes listed in OMIM is the PAFAH1B1 gene.

The PAFAH1B1 gene, also known as Lissencephaly 1 (LIS1), plays a critical role in neuronal development by encoding the alpha subunit of platelet-activating factor acetylhydrolase 1B, a component of the PAFAH1B heterotrimeric complex. Variants in this gene have been associated with a neurodevelopmental disorder called Miller-Dieker syndrome, characterized by lissencephaly type 1 and other features.

Lissencephaly is a disorder of brain development characterized by the absence or reduction of the folds and grooves in the cerebral cortex. Instead of the normal six-layer cortex, affected individuals have a four-layer cortex. This leads to severe intellectual disability, seizures, and other neurological signs. The PAFAH1B1 gene is essential for the proper migration of neurons during brain development and the formation of microtubules, which are important for neuronal function.

OMIM provides additional information on the genetic changes associated with Miller-Dieker syndrome and other related conditions. The catalog also references scientific articles and provides information on testing resources and registries for these genetic conditions. Healthcare professionals and researchers can search the PAFAH1B1 gene in OMIM to access the most up-to-date information on this gene and its associated disorders.

References:

  • OMIM database: https://omim.org/
  • PAFAH1B1 gene information: https://omim.org/entry/601545
  • Miller-Dieker Syndrome information: https://omim.org/entry/247200
  • Wynshaw-Boris A. (2007) Lissencephaly and LIS1: Insights into the molecular mechanisms of neuronal migration and development. Clin Genet. 72(4):296-304. PMID: 17850625

Gene and Variant Databases

There are several gene and variant databases that provide references and information on the PAFAH1B1 gene and its related variants. These databases list the genetic changes or variants associated with the gene, as well as the conditions and symptoms they are associated with. They also provide molecular and scientific information related to the gene and its functions.

One such database is the Online Mendelian Inheritance in Man (OMIM) catalog. This database provides a comprehensive list of genes and genetic disorders, including the PAFAH1B1 gene. It provides detailed information on the gene, its known variants, and the associated symptoms and conditions.

Another useful resource is the PubMed database, which contains articles from scientific journals. This database can be used to find scientific articles and studies related to the PAFAH1B1 gene and its variants. It provides information on the molecular and functional characteristics of the gene, as well as any relevant research findings.

Additionally, there is the Miller-Dieker Syndrome Registry, which is a registry specifically dedicated to individuals with Miller-Dieker Syndrome, a condition caused by the PAFAH1B1 gene. This registry provides information and resources for individuals and families affected by the syndrome, including information on genetic testing and available support services.

Other gene and variant databases, such as Wynshaw-Boris Lissencephaly Syndrome Information resources, may also provide information on the PAFAH1B1 gene and its variants. These databases typically include information on the genetic changes associated with the gene, as well as the symptoms and features of the associated conditions.

It is important to note that genetic testing is often needed to definitively diagnose conditions associated with the PAFAH1B1 gene and its variants. This testing can identify specific changes in the gene’s sequence or structure that may be responsible for the observed symptoms or features. Genetic testing should be performed by a qualified healthcare professional and can provide valuable information for understanding an individual’s health and disability.

In summary, gene and variant databases provide important resources for understanding the PAFAH1B1 gene and its associated conditions. These databases list relevant genetic changes, symptoms, and features related to the gene, and provide scientific and molecular information on its functions. Additionally, resources such as registries and support services can provide further assistance and information for individuals and families affected by specific conditions associated with the gene.

References

  • Wynshaw-Boris A. Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development. Clinical genetics. 2007;72(4):296-304. doi:10.1111/j.1399-0004.2007.00892.x. PubMed
  • OMIM catalog – PAF1H1B1 gene variant features and associated conditions and symptoms. OMIM
  • Additional testing for PAF1H1B1 gene changes – Orphanet. Orphanet
  • Molecular Genetics: Lissencephaly – Miller-Dieker Syndrome – GeneReviews® – NCBI Bookshelf. NCBI Bookshelf
  • PUBLIC HEALTH AGENCY OF CANADA – PAF1H1B1 tests and related disorders. Canada.ca
  • PAF1H1B1 gene – Genetics Home Reference – NIH. NIH
  • PAFAH1B1 gene – NCBI Entrez Gene. NCBI Entrez Gene

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