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The RECQL4 gene is a variant of the Rapadilino syndrome and Baller-Gerold syndrome, both of which are rare genetic conditions. It plays a crucial role in DNA repair in cells and is widely studied for its impact on human health. According to references in OMIM, PubMed, and other scientific databases, mutations in the RECQL4 gene have been associated with several changes and features in affected individuals.

The RECQL4 gene is a helicase, a type of enzyme that unwinds the DNA double helix during replication. It is involved in various DNA repair processes, including the repair of DNA damage caused by UV radiation, oxidative stress, and other external factors. Mutations in the RECQL4 gene can lead to abnormalities in the DNA repair mechanisms, which can result in the development of certain diseases and health conditions.

Testing the RECQL4 gene and other related genes is essential for diagnosing and understanding these diseases. The RECQL4 gene has been linked to Rothmund-Thomson syndrome, a rare disorder characterized by various physical abnormalities, such as a characteristic rash and skeletal abnormalities. Other genetic conditions associated with RECQL4 gene mutations include RAPADILINO syndrome and Baller-Gerold syndrome.

Additional information on the RECQL4 gene and related genetic conditions can be found in various resources, including scientific articles, genetic databases, and catalogs. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic disorders and associated genes. PubMed is a widely used database for accessing scientific research articles related to genetics and medical conditions.

Changes in the RECQL4 gene can lead to various health conditions. These changes, also known as variants, affect the normal functioning of the gene and can result in the development of certain disorders.

RECQL4 is a gene that provides instructions for making a protein called RECQL4 helicase. This protein plays a crucial role in DNA repair and helps maintain the stability of the genome. When the RECQL4 gene is altered, it can disrupt the normal repair process and lead to the development of health conditions.

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One of the syndromes associated with RECQL4 gene changes is Baller-Gerold syndrome. Individuals with this condition may have distinctive facial features, growth delays, skeletal abnormalities, and an increased risk of cancer. Rash and skin abnormalities are also common in individuals with RECQL4-related conditions.

Diagnosing RECQL4-related conditions typically involves genetic testing. Several tests are available to identify changes in the RECQL4 gene and confirm the presence of a genetic variant. These tests can be done using different genetic testing methods, such as DNA sequencing.

Scientific resources like PubMed, OMIM, and the Genetic Testing Registry provide additional information on RECQL4-related conditions. These databases contain articles, references, and information on various health conditions associated with changes in the RECQL4 gene.

Some of the other health conditions related to RECQL4 gene changes include Rapadilino syndrome and Radial ray hypoplasia. Because RECQL4 is involved in DNA repair, changes in the gene can have widespread effects on the body and may contribute to the development of multiple diseases.

Health Conditions Related to RECQL4 Gene Changes
Condition OMIM Number
Baller-Gerold syndrome 218600
Rapadilino syndrome 266280
Radial ray hypoplasia 179200

It is important to consult with healthcare professionals and genetic counselors for more information on RECQL4-related conditions and testing options. They can provide personalized guidance and recommendations based on individual health histories and genetic test results.

References:

Baller-Gerold syndrome

Baller-Gerold syndrome is a rare genetic condition that is caused by mutations in the RECQL4 gene. It is characterized by a combination of physical features, conditions, and health problems.

Individuals with Baller-Gerold syndrome often have craniosynostosis, which is the premature fusion of the skull bones. This can lead to an abnormal head shape and may cause increased intracranial pressure. They may also have radial ray abnormalities, such as absent or underdeveloped thumbs or other fingers, and skeletal abnormalities.

Additional features of Baller-Gerold syndrome can include growth retardation, a rash called Rothmund-Thomson syndrome, and distinctive facial features. The syndrome is also associated with an increased risk of developing cancer, particularly osteosarcoma.

Genetic testing is available to confirm a diagnosis of Baller-Gerold syndrome. The RECQL4 gene provides instructions for making a protein that is involved in DNA repair. Mutations in this gene lead to a deficiency in the RECQL4 protein, which impairs the cell’s ability to repair DNA damage.

Scientific articles on Baller-Gerold syndrome can be found in databases such as PubMed. These articles provide information on the genetic basis of the condition, clinical features, and management strategies.

Other conditions associated with mutations in the RECQL4 gene include Rothmund-Thomson syndrome and Rapadilino syndrome. Individuals with these conditions may also present with features similar to Baller-Gerold syndrome.

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For additional information and resources on Baller-Gerold syndrome, individuals and families can consult genetic testing centers, medical genetics clinics, and genetic counseling services. The Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) database are also valuable sources of information.

In summary, Baller-Gerold syndrome is a rare genetic condition caused by mutations in the RECQL4 gene. It is characterized by craniosynostosis, radial ray abnormalities, growth retardation, and other features. Genetic testing is available to confirm a diagnosis, and resources such as PubMed, GARD, and OMIM provide further information on this condition and related disorders.

RAPADILINO syndrome

RAPADILINO syndrome is a rare genetic condition caused by changes in the RECQL4 gene, which is responsible for DNA repair. It is characterized by a combination of skeletal abnormalities and other features.

The name RAPADILINO is an acronym that stands for the main features of the syndrome:

  • RADIAL aplasia or hypoplasia of the radii
  • PATELLAR aplasia or hypoplasia of the patellae
  • SHORTNESS of stature
  • RADIAL head dislocation or dysplasia
  • ILEUM hypoplasia or aplasia
  • NO ocular abnormalities

People with RAPADILINO syndrome typically have short stature, limb abnormalities, and skeletal dysplasia. They may also have other features such as a rash, dental abnormalities, and gastrointestinal problems.

Diagnosis of RAPADILINO syndrome is based on clinical features, family history, and genetic testing. Testing the RECQL4 gene for changes and variants can confirm the diagnosis.

Genetic testing may include sequencing the RECQL4 gene to identify specific changes or variants. Other tests, such as chromosomal microarray analysis or whole exome sequencing, may be used to identify changes in other genes that are also associated with RAPADILINO syndrome.

Additional resources and information on RAPADILINO syndrome can be found in various scientific databases and publications:

  • PubMed: A database of scientific articles and research studies.
  • OMIM: A catalog of human genes and genetic disorders.

These resources provide information on the genetics, symptoms, diagnosis, and management of RAPADILINO syndrome.

It is important for individuals with RAPADILINO syndrome and their families to seek medical advice and support from healthcare professionals experienced in dealing with this condition. Genetic counseling may also be beneficial to understand the inheritance pattern and recurrence risk.

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is a rare genetic condition that affects multiple systems in the body, including the skin, bones, and eyes. It is caused by changes (variants) in the RECQL4 gene, which provides instructions for making a protein called RECQL4. This protein is involved in DNA repair, a process that fixes damage to the genetic material in our cells.

People with Rothmund-Thomson syndrome often experience a characteristic skin rash, which appears in infancy or early childhood. This rash is typically red and raised, and it can be widespread or limited to certain areas of the body. Over time, the rash may become more faint and spotty. Other features of the syndrome include short stature, skeletal abnormalities, and increased risk of developing certain cancers.

Diagnosis of Rothmund-Thomson syndrome is based on the clinical features observed in the individual. Genetic testing for changes in the RECQL4 gene can provide confirmation of the diagnosis and identify the specific variant. Various genetic testing methods can be used, including sequencing of the entire RECQL4 gene or targeted testing for specific variants known to be associated with Rothmund-Thomson syndrome.

Additional resources for information on Rothmund-Thomson syndrome and related conditions can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases list articles and references related to the syndrome, its genetic cause, and associated features. In addition, genetic testing laboratories and catalogues of genetic variants may provide further information on testing options and variant classifications.

Because Rothmund-Thomson syndrome is a genetic condition, it is important for individuals and families affected by the syndrome to seek genetic counseling. Genetic counselors can provide information and support regarding the genetic basis of the condition, inheritance patterns, and available testing options. They can also discuss the implications of a diagnosis for an affected individual’s health and the health of their family members.

In summary, Rothmund-Thomson syndrome is a rare genetic condition caused by changes in the RECQL4 gene. It is characterized by a distinctive rash, skeletal abnormalities, and increased risk of certain cancers. Genetic testing and counseling are important resources for individuals and families affected by this condition.

Other Names for This Gene

The RECQL4 gene is also known by several other names, reflecting its involvement in DNA repair and its association with certain genetic conditions and syndromes. These names include:

  • Baller-Gerold syndrome, RECQL4 variant
  • RECQ helicase-like 4
  • RecQ protein-like 4
  • RECQ4
  • ATP-dependent DNA helicase Q4
  • RECQL4 DNA helicase
  • ATP-dependent DNA helicase II

The RECQL4 gene is responsible for producing a protein called RECQL4 helicase, which plays a role in DNA repair. This repair process helps to maintain the integrity of the genome and ensure the normal health and function of cells.

The association of RECQL4 with certain genetic conditions and syndromes has led to its inclusion in various genetic testing databases and registries. These resources provide valuable information on the gene, its variants, and their association with specific conditions. Some of the databases and registries where RECQL4 gene information can be found include:

  • OMIM (Online Mendelian Inheritance in Man)
  • PubMed
  • Genetic Testing Registry
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These databases and resources serve as scientific references for researchers and healthcare professionals, providing access to articles, tests, and additional information on the RECQL4 gene and its associated conditions.

In addition to Baller-Gerold syndrome, the RECQL4 gene has been linked to other conditions such as RAPADILINO syndrome and related genetic disorders. These conditions share certain features, including skeletal abnormalities, radial changes, and a characteristic rash.

Further research and testing are ongoing to fully understand the role of the RECQL4 gene in these conditions and to develop effective diagnostic and therapeutic approaches. The availability of genetic testing for changes in the RECQL4 gene can aid in the identification and management of individuals with these conditions.

Overall, the RECQL4 gene, its variants, and its associated conditions are the subject of ongoing scientific investigation and medical research. The identification and characterization of the gene and its associated conditions have important implications for understanding genetic diseases and for improving patient care and outcomes.

Additional Information Resources

Here are some additional resources for more information on the RECQL4 gene and related conditions:

  • Online Databases and Registries: The following databases and registries provide information on genetic testing, genetic variants, and related conditions:
    • PubMed: A scientific database that provides access to articles and references related to the RECQL4 gene and related conditions.
    • OMIM: A comprehensive resource that provides information on genes, genetic conditions, and the relationships between them. The OMIM entry for RECQL4 provides detailed information on the gene and associated conditions.
    • GeneTests: A publicly funded medical genetics information resource that provides information on genetic tests, including those for RECQL4-related conditions.
  • Specific Conditions: The RECQL4 gene is associated with several specific conditions. Some of these conditions include:
    • RAPADILINO syndrome: A rare genetic disorder characterized by skeletal abnormalities, cleft palate, and other distinctive features.
    • Baller-Gerold syndrome: A rare genetic disorder that affects the bones and cranial structures.
    • Rothmund-Thomson syndrome: A rare genetic disorder that affects the skin, bones, and other organs, and is characterized by a distinctive rash.
  • Other Genetic Resources: In addition to the specific conditions listed above, the RECQL4 gene is also linked to other genetic conditions. For more information on these conditions and related genes, you can visit the following resources:
    • PubMed: Search for scientific articles and references related to RECQL4 and its role in other genetic conditions.
    • HGNC: The HUGO Gene Nomenclature Committee provides information on the names and functions of human genes, including RECQL4.
    • National Human Genome Research Institute: The NHGRI provides information on human genetics, genomics, and related research.

Tests Listed in the Genetic Testing Registry

The RECQL4 gene, also known as the baller-gerold syndrome gene, belongs to the helicase family and is involved in DNA repair. Genetic testing for mutations in this gene can help diagnose several conditions, including Rothmund-Thomson syndrome, Baller-Gerold syndrome, Rapadilino syndrome, and others.

These conditions are characterized by various features, such as radial and skeletal abnormalities, growth retardation, rash and skin changes, and other health issues. The RECQL4 gene is associated with these conditions due to changes in its sequence or structure.

The Genetic Testing Registry, a product of the National Center for Biotechnology Information (NCBI), is a comprehensive database that provides information on genetic tests. It lists the various tests available for different diseases and conditions related to genes, including the RECQL4 gene.

The registry includes scientific names, articles, references, and additional resources for each test. It also provides information on the laboratories and companies offering these tests and the time required to perform them.

Several databases and resources are used to compile the information in the Genetic Testing Registry. These include OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific literature.

Genetic testing for variants of the RECQL4 gene can be helpful in diagnosing and managing these syndromes and conditions. It provides valuable information for healthcare professionals and individuals seeking to understand their genetic makeup and potential health risks.

Overall, the Genetic Testing Registry is a widespread and valuable resource that offers comprehensive information on genetic tests for various genes and conditions, including those related to the RECQL4 gene.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information on the repair of DNA and the RECQL4 gene, among other related topics. PubMed is a widely used resource that contains a vast collection of scientific literature.

The RECQL4 gene is known to encode a helicase protein that plays a crucial role in DNA repair. Mutations in this gene can lead to various conditions, including Rothmund-Thomson syndrome and Baller-Gerold syndrome. Testing the RECQL4 gene for changes is essential in diagnosing these genetic diseases.

The RECQL4 gene is listed in several databases, including PubMed and OMIM. These databases provide additional information on the gene, its product, and its role in the genome. They also catalog other related genes and genetic conditions.

Scientific articles on PubMed cover a range of topics related to the RECQL4 gene. They provide insights into the normal functions of the gene, its role in DNA repair, and its association with specific conditions. These articles help researchers and healthcare professionals stay updated on the latest discoveries and advancements in the field.

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One of the conditions associated with RECQL4 gene mutations is Rothmund-Thomson syndrome. This syndrome is characterized by a rash, skeletal abnormalities, and other features. Genetic testing for RECQL4 gene changes can aid in the diagnosis of this condition.

Rapadilino syndrome is another condition linked to RECQL4 gene mutations. It shares some similarities with Rothmund-Thomson syndrome but also has additional unique features. Further research and testing are needed to understand the specific genetic changes that cause this syndrome.

Healthcare professionals and researchers can rely on PubMed to access a wealth of scientific articles on the RECQL4 gene and related topics. The database provides a comprehensive collection of references and resources for further exploration.

  • Scientific articles on PubMed cover various aspects of the RECQL4 gene and its role in DNA repair.
  • REQL4 gene mutations are associated with conditions such as Rothmund-Thomson syndrome and Baller-Gerold syndrome.
  • Testing for RECQL4 gene changes can aid in diagnosing genetic diseases.
  • PubMed and OMIM are valuable resources for accessing additional information on the RECQL4 gene and related genetic conditions.
  • Researchers and healthcare professionals can rely on PubMed for up-to-date scientific information on the RECQL4 gene and its implications in various conditions.

In conclusion, scientific articles available on PubMed provide a wealth of information on the RECQL4 gene, its role in DNA repair, and its association with various genetic conditions. Access to these resources is essential for researchers and healthcare professionals working in the field of genetics.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive database that provides information about genes and genetic conditions. It includes a wide range of diseases, including those associated with the RECQL4 gene.

The RECQL4 gene is responsible for producing a DNA helicase that plays a crucial role in DNA repair. Mutations or changes in this gene can lead to various genetic conditions, including Rothmund-Thomson syndrome and Baller-Gerold syndrome. These syndromes are characterized by a range of symptoms, including skeletal abnormalities, skin rashes, and growth abnormalities.

The OMIM catalog provides additional information on these conditions, such as their clinical features, genetic changes associated with them, references to scientific articles on the topic, and links to other genetic databases. This information can be invaluable for researchers, healthcare professionals, and individuals seeking information about specific genetic conditions.

Some of the features of the OMIM catalog include:

  1. A comprehensive list of genes and genetic conditions
  2. Clinical features and symptoms associated with each condition
  3. References to scientific articles from PubMed and other sources
  4. Links to additional resources and testing laboratories

The OMIM catalog is a valuable tool for researchers and healthcare professionals working in the field of genetics. It provides a centralized and reliable source of information on a wide range of genetic conditions, including those related to the RECQL4 gene. By providing up-to-date and detailed information, the catalog helps improve our understanding of these conditions and assists in the development of effective diagnostic tests and treatment options.

Overall, the OMIM catalog is an important resource for anyone interested in genetics, genomics, and related fields. It serves as a comprehensive and reliable reference for genetic conditions, including those associated with the RECQL4 gene.

Gene and Variant Databases

Gene and variant databases play a crucial role in providing comprehensive information about genes and genetic variants associated with various conditions and diseases. These databases serve as valuable resources for scientists, researchers, healthcare professionals, and individuals interested in understanding the role of genes in health and disease.

One widely used database is PubMed, which is a vast repository of scientific articles and references. It provides a wealth of information about the RECQL4 gene and its variants, along with other genes and their related genetic conditions.

In addition to PubMed, there are several other databases that specifically focus on genes and variants. These databases include:

  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic conditions
  • HGMD (Human Gene Mutation Database) – a database of known disease-causing mutations
  • Genetic Testing Registry – a resource providing information about genetic tests and laboratories offering testing services

These databases provide detailed information on the RECQL4 gene and its variants, as well as other genes associated with conditions like Rothmund-Thomson syndrome, Baller-Gerold syndrome, and Rapadilino syndrome. They list the genetic tests available for these conditions and provide relevant resources for further exploration.

Researchers and healthcare professionals can use these databases to access the most up-to-date information on genes and variants, aiding in the diagnosis, treatment, and management of genetic conditions. Individuals seeking information about their health conditions can also benefit from these databases, as they offer resources to learn more about specific genes, genetic tests, and associated conditions.

Overall, gene and variant databases serve as valuable tools for accessing scientific knowledge, facilitating research, and improving healthcare outcomes by enabling informed decision-making based on reliable and comprehensive information.

References

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