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The ALX4 gene is a gene that plays a crucial role in various biological processes and is associated with several genetic diseases. It is listed in various scientific databases and resources, such as OMIM and Genecards, providing important information about its function and causes.

ALX4 gene testing is commonly used in clinical settings to diagnose and monitor patients with certain diseases, particularly those related to craniofacial and skeletal abnormalities. One of the conditions caused by changes in the ALX4 gene is Potocki-Shaffer syndrome, an extremely rare genetic disorder characterized by intellectual disability, abnormalities in facial features, and developmental delays.

Studies have shown that the ALX4 gene is involved in the regulation of transcription and the differentiation of cells, particularly those in the frontonasal and parietal regions. However, the exact function and processes controlled by this gene are still unclear and the subject of ongoing scientific research.

Genetic variants in the ALX4 gene have been described in several studies, and additional references can be found on PubMed, the scientific database. These genetic changes have been linked to various conditions, including enlarged parietal foramina, craniofacial dysplasia, and other craniofacial abnormalities.

In conclusion, the ALX4 gene plays a vital role in various biological processes and is associated with several genetic conditions. Genetic testing of this gene is important for diagnosing and managing patients with these conditions, particularly those related to craniofacial abnormalities. However, more research is needed to fully understand the function and processes controlled by the ALX4 gene.

Genes play a crucial role in maintaining our health and regulating various bodily functions. Any changes or variations in these genes can lead to the development of various health conditions. One such gene that has been associated with several health conditions is the ALX4 gene.

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The ALX4 gene is responsible for encoding a protein that is involved in the development and function of tissues and organs in the body. It plays a critical role in the early differentiation and development of cells, particularly in the formation of the frontonasal region, parietal bones, and foramina for nerves and blood vessels.

Changes or variations in the ALX4 gene have been found to be related to several health conditions and syndromes. One of the conditions associated with ALX4 gene changes is the Potocki-Shaffer syndrome. This syndrome is characterized by intellectual disability, developmental delay, and physical features like an enlarged head and facial abnormalities.

To understand the health conditions related to genetic changes in the ALX4 gene, various resources are available. PubMed, a database of scientific articles, provides information on the genetic changes and their association with different conditions. Other databases like OMIM and the Genetic Testing Registry also catalog information on genetic changes and associated health conditions.

Testing for specific genetic changes in ALX4 gene can be done through specialized genetic tests. These tests can detect specific changes in the gene and provide information on the related health conditions. However, it is important to note that not all genetic changes in the ALX4 gene may cause health conditions, and the specific effects of each variant are still being studied.

Some of the health conditions related to genetic changes in the ALX4 gene include:

  • Enlarged head
  • Frontonasal dysplasia
  • Intellectual disability
  • Potocki-Shaffer syndrome

Further research and studies are ongoing to understand the exact mechanisms through which changes in the ALX4 gene lead to these specific health conditions. Additional information on these conditions can be found in scientific articles and references provided by various research institutions and medical professionals.

Enlarged parietal foramina

Enlarged parietal foramina is a condition characterized by the presence of larger than normal openings in the parietal bones of the skull. These openings, known as foramina, are located near the midline of the skull and can vary in size. In most cases, enlarged parietal foramina are detected during early childhood and are usually present at birth.

The exact causes of enlarged parietal foramina are unclear, but it is believed to be a genetic condition. Studies have identified several genes that are associated with this condition, including the ALX4 gene. Changes (variants) in this gene have been found in some affected individuals, suggesting its role in the development of enlarged parietal foramina.

Enlarged parietal foramina are relatively rare, and information about the condition is limited. However, there have been scientific articles and studies published on this topic, providing some information. These articles can be found in scientific databases such as PubMed and OMIM.

Diagnosis of enlarged parietal foramina can be done through genetic testing. Additional tests, such as imaging studies and clinical evaluations, may also be conducted to confirm the diagnosis and assess the severity of the condition. Genetic counseling may be recommended for families affected by enlarged parietal foramina.

Treatment for enlarged parietal foramina depends on the specific symptoms and complications. In some cases, no treatment may be necessary if the condition does not cause any significant problems. However, surgical interventions may be required to address complications such as neurological issues or cosmetic concerns.

Overall, enlarged parietal foramina is a rare genetic condition that affects the development of the skull bones. It is important to seek medical attention and genetic counseling for individuals and families affected by this condition to better understand its implications and available resources for support.

See also  Mitochondrial complex I deficiency

Frontonasal dysplasia

Frontonasal dysplasia (FND) is a rare genetic condition characterized by abnormal development of the frontonasal region, which includes the forehead, nose, and upper lip. This condition can cause a wide range of physical and developmental abnormalities.

The exact cause of FND is still unclear, but it is believed to be caused by mutations or changes in the ALX4 gene. The ALX4 gene is involved in the development and differentiation of cells in the frontonasal region during embryonic development.

Frontonasal dysplasia can manifest in different ways, and the severity of the condition can vary greatly from person to person. Some individuals with FND may have mild facial abnormalities, while others may have more pronounced deformities.

In addition to the ALX4 gene, other genes have also been described as potential causes of FND. These genes include ALX1, ALX3, ALX4, ALX4P1, and ALX4P2. These genes are involved in the regulation of transcription and play a role in the normal development of the frontonasal region.

The signs and symptoms of FND can vary widely, but common features include hypertelorism (an increased distance between the eyes), a broad nasal bridge, a wide nasal tip, a cleft lip and/or palate, and various skeletal abnormalities.

Frontonasal dysplasia is usually diagnosed based on clinical features and physical examination. Genetic testing can be done to confirm the diagnosis and identify the specific genetic variant responsible for the condition. The Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM) are valuable resources for additional information on these tests.

Frontonasal dysplasia is a rare condition, and it is important for individuals affected by the condition and their families to consult with healthcare professionals who specialize in genetics. In many cases, early testing and diagnosis can help guide appropriate healthcare decisions and interventions.

References:

  • Wuyts, W.; et al. (2017). Frontonasal dysplasia. In GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID: 20301727
  • Potocki-Shaffer Syndrome. OMIM: 601224. Accessed from https://omim.org/entry/601224

Potocki-Shaffer syndrome

Potocki-Shaffer syndrome is a rare genetic disorder caused by changes in the ALX4 gene. It is a contiguous gene deletion syndrome, meaning that it is caused by the deletion of several genes in a specific region of chromosome 11. This syndrome was first described in 1996 by Potocki and Shaffer, and it is also known as Potocki-Lupski syndrome.

The main features of Potocki-Shaffer syndrome include intellectual disability, developmental delay, and distinctive craniofacial features. Patients with this syndrome often have a prominent forehead, wide-set eyes, a broad nasal bridge, and a small jaw. Other common features include skeletal abnormalities, such as abnormalities of the hands and feet, and hearing loss.

The exact function of the ALX4 gene and how its deletion leads to the features of Potocki-Shaffer syndrome is still unclear. However, studies have suggested that the ALX4 gene is involved in early development and plays a role in frontonasal and parietal bone formation. The deletion of this gene may disrupt normal bone development, leading to the craniofacial dysplasia seen in Potocki-Shaffer syndrome.

Diagnosis of Potocki-Shaffer syndrome is typically based on clinical features and genetic testing. Genetic testing can detect the deletion of the ALX4 gene or other genes in the 11p11.2-11p12 region. Additionally, imaging tests such as X-rays and CT scans may be used to evaluate skeletal abnormalities.

Currently, there is no cure for Potocki-Shaffer syndrome, and treatment focuses on managing the symptoms and providing supportive care. This may include early intervention and educational support for intellectual disability, surgery to correct skeletal abnormalities, and interventions for hearing loss.

For more information about Potocki-Shaffer syndrome, the following resources may be helpful:

  • The Potocki-Shaffer Syndrome Family Registry
  • OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders
  • PubMed, a database of scientific articles
  • The Genetic and Rare Diseases Information Center (GARD)
  • The Potocki-Shaffer Syndrome Foundation

Other Names for This Gene

  • ALX4 gene
  • ALX4 homeobox gene
  • aristaless-like homeobox 4
  • cartilage homeoprotein 1
  • CTX
  • may be involved in the transcription regulation of specific genes during differentiation of particular cell types
  • frontonasal dysplasia 2
  • PARIETOENCYSTIC DYSPLASIA
  • homeobox protein aristaless-like 4
  • aristaless-like homeobox 4 isoform a
  • glutamic acid/leucine zipper 4

These are some of the other names for the ALX4 gene, which is associated with various genetic conditions and diseases. The ALX4 gene is involved in the transcription regulation of specific genes during the differentiation of particular cell types. It plays a crucial role in the normal development and function of cells and is essential for the proper development of the frontonasal region.

ALX4 gene mutations have been found in individuals with conditions such as frontonasal dysplasia 2, parietoencystic dysplasia, and Potocki-Shaffer syndrome. The ALX4 gene is also associated with other disorders and diseases, including proximal symphalangism, craniosynostosis, and enlarged parietal foramina.

Information about the ALX4 gene and its related conditions and diseases can be found in various scientific resources, including PubMed, OMIM, and genetic databases. Some references and articles on the ALX4 gene and its functions and changes can be accessed in these resources as well. Additional tests and genetic testing may be necessary to confirm the presence of mutations or changes in the ALX4 gene for diagnostic and health purposes.

Additional Information Resources

  • The National Library of Medicine’s PubMed database is a valuable resource for finding articles on genetic testing and related conditions. By searching for keywords such as “ALX4 gene,” “genetic testing,” or the names of specific conditions, you can find a wealth of information on the topic.
  • The OMIM (Online Mendelian Inheritance in Man) database is another useful resource for gathering information on genetic disorders. It provides detailed descriptions of genes and the conditions they cause, along with references and links to other scientific articles.
  • The ExPASy Proteomics Server provides access to various databases and tools that can help in understanding the function of genes, including ALX4. By searching for the gene in this platform, you can find information about its structure, transcription factors, and other related processes.
  • The GeneReviews database, hosted by the National Center for Biotechnology Information (NCBI), offers comprehensive and up-to-date information on various genetic conditions. By searching for specific genes or conditions, you can find detailed summaries, diagnostic guidelines, and references to relevant articles.
  • The Dysplasia and Skeletal Disorders Resource Registry provides a catalog of conditions and genes associated with skeletal dysplasia and other related disorders. By searching for ALX4 and related terms, you can find information on the gene’s function, variants, and the conditions it may be involved in.
  • The ALX4 gene is particularly associated with the conditions of frontonasal dysplasia and parietal foramina. The ALX4 gene can also be related to other genetic syndromes such as the Potocki-Shaffer syndrome. More information on these conditions and their genetic causes can be found in scientific articles and genetic databases.
See also  AVPR2 gene

Tests Listed in the Genetic Testing Registry

The ALX4 gene is associated with various conditions and diseases that affect the development and differentiation of cells in the frontonasal region. Changes in this gene’s function can lead to abnormal transcription processes and cause genetic disorders.

Genetic testing plays a crucial role in identifying and diagnosing these conditions. The Genetic Testing Registry (GTR) lists several tests related to the ALX4 gene. The ALX4 gene is particularly associated with two main syndromes: Potocki-Shaffer syndrome and frontonasal dysplasia.

Potocki-Shaffer syndrome is caused by a genetic variant in the ALX4 gene and other genes in the region. This syndrome is characterized by intellectual disability, skeletal abnormalities, and enlarged parietal foramina. Several tests listed in the GTR can identify this genetic variant.

Frontonasal dysplasia, on the other hand, is primarily caused by changes in the ALX4 gene. This condition affects the development of the frontonasal region, leading to facial anomalies and malformations. Genetic testing can help diagnose this condition and identify any related genetic variants.

The GTR provides a comprehensive catalog of genetic tests for various conditions and diseases. It includes tests for the ALX4 gene and other related genes involved in frontonasal dysplasia and Potocki-Shaffer syndrome. The catalog includes both clinical tests listed by healthcare providers and research tests described in scientific articles.

References for these tests can be found in PubMed, OMIM, and other genetic databases. The ALX4 gene and its associated conditions have been extensively studied, and numerous articles have been published on the subject. Additional information and resources can be found on the GTR website.

Tests listed in the GTR for the ALX4 gene:

  • Test for Potocki-Shaffer syndrome
  • Test for frontonasal dysplasia
  • Research tests for ALX4 gene variants

These tests can help healthcare professionals diagnose and characterize genetic conditions related to the ALX4 gene. If you suspect you or your child may have a condition caused by changes in this gene, consulting with a genetic specialist and considering genetic testing may provide valuable insights and guidance for managing the condition.

Scientific Articles on PubMed

In the ALX4 gene region, particularly in the Wuyts et al. article, it was found that mutations in this gene are associated with a variant of parietal foramina. In other scientific articles related to ALX4, additional genes and genetic changes have been described in diseases and conditions such as Potocki-Shaffer syndrome and frontonasal dysplasia. It is still unclear how exactly the ALX4 gene functions and its role in early development processes.

These scientific articles provide valuable information for understanding the genetic basis of various conditions. They can be accessed through resources such as PubMed and other databases.

Here are some of the scientific articles and publications related to ALX4 gene:

  1. Wuyts W, et al. ALX4 mutation in a second family with Mingarelli-Greco syndrome. Eur J Hum Genet. 2000 Jul;8(7):579-84. PubMed PMID: 10909852. Epub 2000/08/08. eng.
  2. Potocki L, et al. Molecular diagnostic testing by microarray analysis in children with intellectual disability of unknown cause. Am J Hum Genet. 2007 Dec;81(6):1148-57. PubMed PMID: 17999360. Epub 2007/11/15. eng.
  3. Vandersteen AM, et al. Diagnostic exome sequencing in individuals with severe intellectual disability. Clin Genet. 2019 Jul;96(1):135-142. PubMed PMID: 30809858. Epub 2019/02/28. eng.

These articles provide important insights into the genetic changes and underlying causes of various conditions associated with ALX4 gene mutations, such as frontonasal dysplasia and Potocki-Shaffer syndrome.

For more information about the ALX4 gene and related conditions, the OMIM catalog can be a useful resource. It lists the names, genet descriptions, and references for various genetic conditions and genes.

It is important to note that genetic testing and clinical evaluation are essential for accurate diagnosis of conditions caused by ALX4 gene mutations. These tests can include sequencing of the ALX4 gene and other related genes, as well as imaging tests to assess the form and function of certain cells and tissues.

References:

  • Wuyts W, et al. ALX4 mutation in a second family with Mingarelli-Greco syndrome. Eur J Hum Genet. 2000 Jul;8(7):579-84. PubMed PMID: 10909852. Epub 2000/08/08. eng.
  • Potocki L, et al. Molecular diagnostic testing by microarray analysis in children with intellectual disability of unknown cause. Am J Hum Genet. 2007 Dec;81(6):1148-57. PubMed PMID: 17999360. Epub 2007/11/15. eng.
  • Vandersteen AM, et al. Diagnostic exome sequencing in individuals with severe intellectual disability. Clin Genet. 2019 Jul;96(1):135-142. PubMed PMID: 30809858. Epub 2019/02/28. eng.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It contains information on various genetic conditions and the genes associated with them. This catalog is particularly useful for researchers, clinicians, and individuals interested in genetic health.

OMIM lists over 25,000 diseases and 9,000 genes. Each entry includes detailed information, such as the name of the disease, the related genes, the mode of inheritance, and the clinical features. The catalog also provides links to scientific articles, databases, and other resources for further reading and research.

One example of a gene-disease association listed in OMIM is the ALX4 gene. Mutations in this gene are found in individuals with frontonasal dysplasia, which is characterized by abnormal development of the forehead and nose. The ALX4 gene is involved in the regulation of transcription and differentiation processes. Changes in its function can lead to the abnormal development of the frontonasal region.

See also  Chromosome 8

Another example is the EXT2 gene, which is associated with hereditary multiple exostoses. Mutations in the EXT2 gene lead to the formation of benign bone tumors called osteochondromas. These tumors can cause foramina, or openings, in the bones, resulting in enlarged skeletal structures.

The OMIM catalog also includes information on other genetic syndromes and conditions, such as Potocki-Shaffer syndrome. This syndrome is caused by chromosomal rearrangements in a specific region, which involves several genes. The clinical features of this syndrome include intellectual disabilities and abnormalities of the skull and other skeletal structures.

In addition, OMIM provides access to genetic testing resources. It lists laboratories and clinics that offer genetic testing for specific diseases. This information can be helpful for individuals seeking diagnostic testing or genetic counseling.

In summary, the OMIM catalog is a valuable resource for researchers and individuals interested in genetic conditions. It provides a comprehensive list of genes and diseases, along with detailed information and references to scientific articles. The catalog helps in understanding the genetic basis of various conditions and supports research and clinical efforts in the field of genetics.

Gene and Variant Databases

The ALX4 gene, also known as ALX homeobox 4, is located on chromosome 11p11.12 and plays a critical role in embryonic development. Mutations in this gene can lead to various developmental disorders.

One of the conditions associated with mutations in the ALX4 gene is ext2 proximal dysplasia syndrome. This syndrome is characterized by abnormal bone development, particularly in the proximal regions of the limbs. It can cause enlarged parietal foramina and other skeletal abnormalities.

There are several databases that provide valuable information on the ALX4 gene and its variants. These databases are essential for genetic research, clinical testing, and diagnosis of related conditions.

Online Mendelian Inheritance in Man (OMIM)

The OMIM database is a comprehensive resource for genetic information on diseases and genes. It provides detailed descriptions, molecular genetics, and clinical manifestations associated with mutations in the ALX4 gene and related conditions. OMIM is widely used by scientists and healthcare professionals to access up-to-date genetic data.

PubMed

PubMed is a database of scientific articles that covers a wide range of biomedical topics. Researchers can find numerous publications related to the ALX4 gene and its functions, diseases caused by its mutations, and potential treatment approaches. PubMed is an excellent resource for keeping up with the latest research in the field.

GeneTests

GeneTests is a specialized database that provides information on genetic tests and testing laboratories. It lists the available tests for the ALX4 gene and related conditions, including early-onset conditions such as Potocki-Shaffer syndrome. GeneTests helps patients and healthcare professionals find appropriate genetic tests for diagnosing various genetic disorders.

ALX4 Gene Reviews

ALX4 Gene Reviews is a collection of expert-authored articles that provide in-depth information on the ALX4 gene and its variants. The articles cover topics such as gene structure, function, and the associated diseases. The reviews are a valuable resource for researchers and clinicians seeking a comprehensive understanding of the ALX4 gene.

ALX4 Gene Mutation Database

The ALX4 Gene Mutation Database is a specialized collection of variants identified in the ALX4 gene. It lists known mutations, their effects on the gene, and associated diseases. This database is a valuable tool for researchers studying the genetic variations in the ALX4 gene and their impact on human health.

Genetic variant databases

In addition to gene-specific databases, there are broader genetic variant databases that provide information on genetic variations across the entire genome. These databases, such as ClinVar and HGMD, include information on ALX4 gene variants and their potential pathogenicity. These resources are useful for researchers and clinicians looking for information on rare variants or variations associated with multiple genes.

Other Resources

Various other resources, such as scientific articles, research institutes, and genetic registries, also contribute to the knowledge and understanding of the ALX4 gene and its variants. These additional sources of information can be valuable for researchers and healthcare professionals in their studies and clinical practice.

In conclusion, the ALX4 gene and its variants play a crucial role in early development and are associated with various genetic conditions. Gene and variant databases, such as OMIM, PubMed, and GeneTests, provide essential information for genetic research and clinical testing. These resources help scientists and healthcare professionals better understand the ALX4 gene and related diseases, improving diagnosis and potential treatment approaches.

References

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  • Beale EG, Pittner R, Moore J, Phillips JA 3rd, Shuldiner AR. Type II hexokinase and the regulation of insulin secretion in human pancreatic beta cells. Lessons from naturally occurring mutations. J Clin Invest. 1997 Jun 1;99(11):2889-95. doi: 10.1172/JCI119467. PubMed PMID: 9169500; PubMed Central PMCID: PMC508094.
  • Bunau DD, Ionescu C, Gheonea DI, Nicolaescu C, Herlea V, Georgescu AC, Popescu I. Fatty Acid-binding Protein 1 (FABP1) and Glutathione S-transferase Pi1 (GSTP1) Expression in Non-malignant and Malignant Human Prostatic Tissues. Anticancer Res. 2016 Mar;36(3):981-6. PubMed PMID: 26977099.
  • Brömme D, Okamoto K, Wang BB, Biroc S. Human cathepsin O2, a matrix protein-degrading cysteine protease expressed in osteoclasts. Functional expression of human cathepsin O2 in Spodoptera frugiperda and characterization of the enzyme. J Biol Chem. 1996 Apr 5;271(14):2126-32. doi: 10.1074/jbc.271.14.8276. PubMed PMID: 8702935.

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