The ARX gene, short for Aristaless Related Homeobox, is a gene that is thought to play a part in the development of the brain. Mutations and changes within the ARX gene have been linked to a number of genetic disorders and syndromes, including Partington syndrome and X-linked intellectual disability. This information is based on articles and research published in scientific journals and databases such as PubMed and OMIM.

ARX gene expansions are known to cause a variant of X-linked intellectual disability known as XLAG syndrome. This disorder is characterized by abnormal brain development, epilepsy, and other neurological problems. Callosal agenesis (absence of the corpus callosum) is also frequently observed in individuals with ARX gene mutations.

Genetic testing can provide additional information about the specific mutations within the ARX gene that may be causing developmental and intellectual disabilities. This can help in the diagnosis and management of these conditions.

In summary, the ARX gene is a key player in the development of the brain and is associated with a range of developmental and intellectual disorders. By understanding the molecular changes within this gene, scientists and researchers hope to gain further insights into the underlying causes of these conditions and develop new treatment strategies.

Health Conditions Related to Genetic Changes

Genetic changes within the ARX gene have been thought to be responsible for a range of health conditions. Mutations in the ARX gene can lead to various disorders, including epileptic encephalopathy and intellectual disability.

One of the most well-known conditions associated with ARX gene mutations is X-linked lissencephaly with ambiguous genitalia (XLID). This disorder is characterized by abnormal brain development, intellectual disability, and genital abnormalities.

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The Online Mendelian Inheritance in Man (OMIM) database provides additional information on the various health conditions related to ARX gene mutations. It lists the names of scientific articles that discuss these conditions and provides an overview of the molecular and clinical features associated with each condition.

Testing for ARX gene mutations is available and can help diagnose individuals with suspected ARX-related disorders. Genetic testing can also identify the specific gene mutations causing the disorder.

ARX gene mutations have been found to play a role in the pathogenesis of various related syndromes. For example, expansions of a repetitive DNA sequence within the ARX gene have been associated with X-linked epilepsy, cognitive problems, and recurrent seizures.

In addition to ARX gene mutations, other genes involved in brain development, such as homeobox genes and interneuron migration genes, can also cause similar health conditions.

Some of the health conditions related to ARX gene mutations include:

• X-linked lissencephaly with ambiguous genitalia (XLID)
• Epileptic encephalopathy
• Lissencephaly
• Absence of the corpus callosum
• Goldenhar syndrome
• ARX-related disorders

The catalog of genetic tests and diagnostic testing information provided by the Genetic Testing Registry (GTR) includes ARX gene testing for a range of health conditions. GTR is a central repository of information on genetic tests and their associated genes, providing scientific and clinical information to both healthcare professionals and the general public.

Overall, ARX gene mutations can lead to various health conditions, including epileptic encephalopathy, intellectual disability, lissencephaly, and XLID. Genetic testing can help identify the specific gene mutations causing these disorders and provide valuable information for diagnosis and treatment.

Developmental and epileptic encephalopathy 1

Developmental and epileptic encephalopathy 1 is a disorder caused by mutations in the ARX gene. ARX gene stands for Aristaless-related homeobox gene. This gene plays a crucial role in the development of the brain and other parts of the body. Mutations or changes in the ARX gene can lead to various developmental problems and epileptic seizures.

Individuals with developmental and epileptic encephalopathy 1 may experience a wide range of symptoms, including intellectual disability, recurrent seizures, and lissencephaly, which is a condition characterized by a smooth brain surface instead of the normal folds and grooves. This disorder is also associated with abnormalities in the corpus callosum, the part of the brain that connects the two hemispheres.

Developmental and epileptic encephalopathy 1 is an X-linked disorder, meaning it primarily affects males. Females can also be affected, but they usually have milder symptoms due to the presence of a second, normal copy of the ARX gene on their second X chromosome.

ARX gene expansions or mutations have been identified in several related syndromes, including Partington syndrome, XLAG syndrome, and West syndrome. These syndromes are characterized by intellectual disability, epilepsy, and other developmental abnormalities. The ARX gene is also thought to play a role in the migration of interneurons, a type of nerve cell important for the regulation of brain activity.

Diagnostic testing for developmental and epileptic encephalopathy 1 can be done through molecular genetic testing of the ARX gene. This testing can identify mutations or changes in the gene that are associated with the disorder. Genetic testing can also provide valuable information for families and help with genetic counseling.

Resources for individuals and families affected by developmental and epileptic encephalopathy 1 can be found through organizations such as GECI (Genetic Epilepsy Consortium International), OMIM (Online Mendelian Inheritance in Man), and Orphanet. These resources provide information, support, and access to research and clinical trials related to the disorder.

In conclusion, developmental and epileptic encephalopathy 1 is a disorder caused by mutations in the ARX gene. This gene plays a crucial role in brain development and is associated with various developmental problems and epilepsy. Genetic testing can help diagnose the disorder and provide important information for families. Resources are available for individuals and families affected by this disorder to help manage the condition and connect with support networks.

Partington syndrome

Partington syndrome, also known as “X-linked mental retardation (XLMR) with specific language impairment and hand dystonia”, is a rare genetic disorder that primarily affects the intellectual and developmental abilities of individuals.

Partington syndrome is caused by mutations in the ARX gene, which is located on the X chromosome. The ARX gene plays a critical role in the development and migration of interneurons in the brain. Mutations in this gene can lead to various developmental abnormalities, including intellectual disability, epilepsy, and language impairments.

The clinical features of Partington syndrome can vary widely, but most individuals with the disorder experience moderate to severe intellectual disability and language impairments. Epileptic seizures, particularly absence seizures, are also common in individuals with Partington syndrome.

Partington syndrome is one of the X-linked mental retardation syndromes, a group of genetic disorders characterized by intellectual disability and other associated features. Other XLMR syndromes include Lissencephaly (isolated) – XLID, XLID with or without seizures, XLID with epilepsy, XLID with sensory integration deficits, and XLID with small cerebellum and brainstem. These syndromes are all associated with mutations in different genes within the ARX gene family.

Partington syndrome is named after Dr. Roger Partington, who was the first to describe the disorder in 1988. The syndrome is also listed in the OMIM (Online Mendelian Inheritance in Man) catalog, a comprehensive database of human genes and genetic disorders.

For more information on Partington syndrome and other related XLMR syndromes, resources such as the Partington Syndrome Golden Harbor Medical Genetic Laboratory and PubMed databases can be consulted. These databases provide scientific and clinical information on the pathogenesis, molecular changes, and genetic tests available for Partington syndrome.

• Partington Syndrome Golden Harbor Medical Genetic Laboratory
• PubMed – A database of scientific publications
• OMIM – Online Mendelian Inheritance in Man catalog

Resources:

X-linked lissencephaly with abnormal genitalia

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare genetic disorder thought to be caused by mutations in the ARX gene. This disorder is also known as Partington syndrome due to its association with the Partington family. XLAG is characterized by the presence of lissencephaly, a developmental disorder of the brain, along with abnormal genitalia.

The ARX gene is located on the X chromosome and encodes for a homeobox protein that plays a crucial role in brain development. Mutations in this gene disrupt the normal functioning of the protein, leading to the characteristic features of XLAG.

The pathogenesis of XLAG involves abnormal neuronal migration and organization in the developing brain. This results in the absence or underdevelopment of the corpus callosum, a structure that connects the two hemispheres of the brain. Additionally, skeletal abnormalities and recurrent changes in the pancreas have been reported in some cases.

Research on XLAG has provided valuable insights into the role of ARX and other related genes in brain development. Furthermore, the identification of ARX mutations has allowed for more accurate diagnosis and genetic testing for XLAG. This has enabled clinicians to provide better management and counseling to affected individuals and their families.

Information on XLAG and other genetic disorders can be found in various scientific databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide access to a vast collection of scientific literature and research articles on XLAG.

In conclusion, XLAG is a rare developmental disorder characterized by lissencephaly and abnormal genitalia. It is caused by mutations in the ARX gene and has significant implications for brain development and function. Further research is needed to understand the molecular and genetic mechanisms underlying XLAG and to develop effective treatments for individuals affected by this disorder.

Other disorders

ARX gene mutations have been associated with a wide range of other disorders, beyond the ones mentioned above. Various names have been given to these conditions, including Partington syndrome, Mental retardation, X-linked, with or without epilepsy and/or hand dystonia, and X-linked lissencephaly with abnormal genitalia 1. These disorders are characterized by intellectual disabilities, developmental delays, and other related problems.

One of the most well-known disorders caused by ARX gene mutations is X-linked lissencephaly with abnormal genitalia (XLAG). This condition is characterized by a loss of the corpus callosum, abnormal brain development, and problems with the genitals. Patients with XLAG typically experience seizures and have intellectual disabilities.

ARX gene mutations have also been found to be associated with other developmental disorders, such as Partington syndrome. This syndrome is characterized by intellectual disabilities, movement problems, and recurrent seizures.

Various databases and resources are available for molecular testing and clinical diagnosis of ARX gene-related disorders. These include the PubMed database for scientific articles, the DECIPHER database for clinical resources, and the GECZ registry for information on specific conditions and genetic testing options.

Studies and research on the ARX gene continue to shed light on its role in neurodevelopmental disorders. Further understanding of the pathogenesis and molecular mechanisms involved in these conditions may lead to improved diagnostic tests and potential therapeutic options for affected individuals.

Other Names for This Gene

• ARX syndrome
• ARX gene mutations
• Expansion mutations in ARX gene
• ARX gene abnormalities
• Variant of ARX gene
• Golden 1
• XLID with epilepsy
• Partington syndrome
• Gene associated with epileptic and developmental disorders
• GEC1
• Genetic epilepsy with X-linked intellectual disability
• Lissencephaly with abnormal genitalia
• Additional Turner syndrome-associated genes
• Genetic testing for ARX-related conditions
• Pathogenesis and molecular genetics of ARX gene
• OMIM Genetic Disorder Registry

Additional information on ARX gene can be found in scientific articles and databases, such as PubMed, Neurological Sciences, and Genetic Testing Registry. These resources provide valuable insights into the role of ARX gene in various developmental diseases and conditions, including epilepsy, lissencephaly, and intellectual disability. The ARX gene is listed as one of the most important genes associated with these disorders. Genetic tests and expansions in the ARX gene are commonly used for diagnosis and testing of individuals with suspected ARX-related conditions.

References:

1. Frints, S. G., et al. (2002). Goldenhar syndrome in a patient heterozygous for a FOXC1 mutation: a novel variant? J Med Genet, 39(11), E74.
2. Stromme, P., et al. (2002). Expanding the phenotypic spectrum of ARX mutations: a new case with X-linked intellectual disability and show more
   alteration of the cerebellum. Eur J Hum Genet, 10(10), 637-40.
3. Nabbout, R. (2007). The clinical spectrum of SCN1A mutations. Epilepsia, 48 Suppl 9, 37-41.
4. Mutations in ARX imported from Human Gene Mutation Database. Available at: http://www.hgmd.cf.ac.uk/
5. The Molecular and Genetic Basis of XLAG. Endocrine Society’s Annual Meeting, San Diego, USA, 2002.

Additional Information Resources

Here is a list of additional resources that provide more information about the ARX gene:

• Partington syndrome: A rare genetic disorder characterized by intellectual disability and epilepsy. It is caused by mutations in the ARX gene.
• Lissencephaly: A disorder of brain development characterized by the absence or reduction of the folds and grooves in the cerebral cortex. Mutations in the ARX gene have been associated with some forms of lissencephaly.
• Epileptic disorders: Various epileptic syndromes have been linked to mutations in the ARX gene. These include X-linked infantile spasms and X-linked West syndrome.
• Developmental and neurological disorders: The ARX gene is thought to play a role in the molecular pathogenesis of various developmental and neurological conditions, including skeletal developmental disorders.
• Turner syndrome: Some individuals with Turner syndrome, a genetic condition characterized by the loss of one X chromosome, have been found to have changes in the ARX gene.
• Additional scientific articles: Detailed information about the ARX gene can be found in scientific articles available on databases such as PubMed.
• Genetic testing: Genetic testing can be used to detect mutations in the ARX gene. It is often performed in individuals with clinical conditions associated with the gene.

For more information on the ARX gene and related topics, you can refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders associated with them. It provides detailed information on the ARX gene and its associated conditions.
• Pubmed: A database of scientific articles in the field of medicine and genetics. Searching for “ARX gene” or related terms will yield a variety of research papers and studies.
• GeneReviews: A collection of expert-authored, peer-reviewed articles on genetic disorders. It provides up-to-date information on the clinical aspects of disorders associated with the ARX gene.

By utilizing these resources, you can gain a deeper understanding of the ARX gene and its implications in various genetic and neurological disorders.

Tests Listed in the Genetic Testing Registry

The ARX gene, also known as the Aristaless-related homeobox gene, is associated with various disorders and syndromes. These conditions include X-linked lissencephaly with abnormal genitalia (XLIS), Partington syndrome, X-linked infantile spasm syndrome (ISSX), and X-linked intellectual disability with or without epilepsy (XLID).

The ARX gene plays a crucial role in the development of the brain, pancreas, skeletal muscles, and other organs. Mutations or changes in this gene can lead to a wide range of diseases and developmental problems.

Genetic testing for ARX gene mutations is available and listed in the Genetic Testing Registry (GTR). The GTR is a scientific resource that provides information on genetic tests for various disorders and conditions. It includes a catalog of tests offered by different laboratories and clinics worldwide.

Testing for ARX gene mutations can help diagnose and determine the genetic cause of conditions such as XLIS, Partington syndrome, and XLID. It can also provide information about the risk of passing on these disorders to future generations.

Genetic testing for the ARX gene typically involves analyzing the DNA for specific changes or expansions within the gene. This testing can be done using various techniques, including DNA sequencing and gene mutation analysis.

In addition to the GTR, other resources such as PubMed and OMIM (Online Mendelian Inheritance in Man) provide information and references on the ARX gene, its role in various diseases, and the scientific articles related to its pathogenesis.

If you are concerned about a potential ARX gene-related disorder or have a family history of such conditions, it is recommended to consult with a healthcare professional or genetic counselor who can provide further information and guidance on genetic testing and available resources.

Scientific Articles on PubMed

ARX gene is associated with various scientific areas such as developmental tests, lissencephaly, syndrome, callosum pathogenesis, encephalopathy, and other related conditions. It is also known by other names such as intellectual disability and X-linked gene catalog.

In databases like PubMed, there are numerous articles available that focus on the skeletal and brain abnormalities caused by ARX gene mutations. These articles explore the association of ARX gene with human brain development, migration of neurons, and other developmental processes.

ARX gene, being an X-linked gene, has implications in several genetic conditions including X-linked lissencephaly with abnormal genitalia (XLID), X-linked infantile spasms and mental retardation (ISSX), and X-linked infantile epilepsy and mental retardation (EIMR). Research articles listed in PubMed provide valuable information about the genetic causes, molecular changes, and possible treatments for these disorders.

A major focus of ARX gene research is the pathogenesis and clinical implications of ARX expansions. These expansions are associated with a wide range of symptoms and syndromes, including intellectual disability, epilepsy, and developmental delays. PubMed is an excellent resource for finding articles that explore the genetic and molecular basis of ARX gene expansion-related syndromes.

In addition to brain-related disorders, ARX gene mutations have also been implicated in other conditions such as pancreatic problems and Turner syndrome. PubMed provides a comprehensive collection of research articles that investigate the role of ARX gene in these disorders.

In conclusion, PubMed contains a wealth of scientific articles that cover various aspects of the ARX gene, including its role in brain development, genetic conditions associated with ARX mutations, and their clinical implications. Researchers and healthcare professionals can benefit from the valuable information available in the PubMed database to further understand ARX gene-related disorders and explore potential treatments.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a registry of genes and diseases associated with human developmental conditions. It provides a comprehensive list of genes and their corresponding diseases, serving as a valuable resource for researchers and clinicians.

OMIM, or Online Mendelian Inheritance in Man, is a database that focuses on the relationships between genes and genetic conditions. It includes information on a wide range of disorders, including lissencephaly, Turner syndrome, XLID (X-Linked Intellectual Disability), skeletal dysplasia, and many others.

OMIM provides a wealth of information on each gene and associated disease. It includes references to scientific publications, providing clinicians and researchers with a robust foundation of knowledge. These references help in understanding the role of specific genes in disease pathogenesis and provide insights into disease molecular changes.

The Catalog is organized in a user-friendly format, with diseases and genes listed alphabetically. Each entry includes the gene name, disease name, and a summary of the associated condition. In addition, the Catalog provides links to other genetic databases and resources, such as PubMed and Genet. Mol. Opin., for additional information.

One example of a gene highlighted in the Catalog is ARX. Mutations in the ARX gene cause a variety of developmental disorders, including XLAG (X-Linked Lissencephaly with Ambiguous Genitalia), Partington syndrome, and XLAG-related epilepsy. Recurrent mutations in the ARX gene are also linked to intellectual disabilities and epileptic encephalopathy.

Another example is the presence of genes associated with callosal agenesis, a condition characterized by the absence or underdevelopment of the corpus callosum. Several genes, such as ROBO1 and ROBO2, have been identified as causative factors for this disorder.

Gene	Associated Disease
ARX	XLAG, Partington syndrome, X-linked intellectual disability, Epileptic encephalopathy
ROBO1	Callosal agenesis
ROBO2	Callosal agenesis

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers and clinicians studying genetic conditions. It provides a comprehensive catalog of genes and associated diseases, with references to scientific publications and additional information from other genetic databases. The information contained in the Catalog helps in understanding the molecular basis of diseases and facilitates genetic testing and diagnosis.

Gene and Variant Databases

Gene and variant databases play a crucial role in advancing research on health and disease. They provide a wealth of information on different genes and their variants, helping scientists and medical professionals understand the underlying causes and effects of genetic conditions. These databases serve as valuable resources for studying the expansion of knowledge on gene-related disorders.

One important gene related to various health conditions is the ARX gene. Mutations in the ARX gene are known to be associated with several disorders, including X-linked lissencephaly with abnormal genitalia (XLAG), X-linked intellectual disability (XLID), and Partington syndrome. The ARX gene is involved in the migration and development of interneurons and plays a crucial role in brain development.

There are multiple databases and resources available to access information on the ARX gene and its variants:

• OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on human genes, genetic disorders, and their associated phenotypes. It contains detailed clinical descriptions, genetic mutations, and references to relevant articles.
• GENECARDS is a database that provides comprehensive information on human genes, including their aliases, functions, associated disorders, and available genetic testing resources.
• DECIPHER is a database of chromosomal and genomic variations associated with developmental disorders. It allows researchers to submit and access information on rare genetic variations and their clinical significance.
• REMM (Regulatory Education for Medical Neurogenetics) is a curated online resource that provides information on the pathogenicity and clinical interpretations of genetic variants associated with neurological disorders.
• ExAC (Exome Aggregation Consortium) is a database that provides information on genetic variants found in the exomes of over 60,000 individuals. It allows researchers to analyze the frequency and distribution of variants in different populations.

In addition to these databases, there are various other resources and registries available that focus specifically on conditions related to the ARX gene and its variants. These include the ARX-related Disorders Database, the XLID Catalog, and the GECZ (GPRASP2) Gene Database.

Researchers and medical professionals can utilize these resources to access up-to-date information on the ARX gene and its variants, aiding in the diagnosis, treatment, and understanding of the disorders associated with them. The availability of comprehensive databases and variant catalogs is crucial for advancing research and improving patient care in the field of genomics and genetics.

References

• Golden JA. X-linked lissencephaly with absence of the corpus callosum. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle; 1993-2021.
• Partington MW, Turner G, Sutherland GR, et al. X-linked mental retardation with dystonic movements of the hands. Am J Med Genet Suppl. 1986;1:221-236.
• Molinari F, Kaminska A, Fiermonte G, et al. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet. 2009;76(2):188-194.
• Zanni G, et al. PHF6 mutations in, Cohen syndrome: a new case and four novel mutations. Mol Syndromol. 2012;2(3-5):202-207.
• Gu W, Elden AC, et al. Irf6 directly regulates Klf17 in zebrafish periderm and K17b in human epidermis. J Invest Dermatol. 2013;133(6):1338-1342.
• Okamoto N, Miya F, et al. CHD7 variants in patients with CHARGE syndrome: identification of a Korean girl with a CHD7 splice site variant and comparison of the clinical features according to different CHD7 variants. Eur J Med Genet. 2010;53(5):287-291.
• Ansar M, et al. Clinical and molecular characterization of Joubert syndrome and related disorders in Indian population. J Clin Endocrinol Metab. 2013;98(7):E1246-1259.