The SPRED1 gene is associated with various health conditions and syndromes, including Legius syndrome and Neurofibromatosis type 1 (NF1). This gene plays a crucial role in regulating the Ras/MAPK signaling pathway, which is involved in many cellular processes and developmental pathways. Mutations in the SPRED1 gene can lead to the production of a nonfunctional SPRED1 protein, resulting in changes to the Ras/MAPK signaling pathway and causing the development of these diseases.

The SPRED1 gene is also known as the Sprouty-related, EVH1 domain-containing protein 1 gene. It is listed in various genetic databases and resources, such as OMIM, HGNC, and the NCBI Gene database. These databases provide additional information on the SPRED1 gene, including references to scientific articles and other related genes.

There are tests available to detect mutations in the SPRED1 gene, which are used for diagnostic purposes. The Legius syndrome clinical diagnostic criteria and the NF1 diagnostic criteria both include testing for SPRED1 gene mutations. Genetic testing for SPRED1 mutations is typically performed in specialized laboratories and clinics that have access to the necessary equipment and expertise.

The SPRED1 gene is also included in the NF1 gene variant registry, which contains information on various genetic variants associated with NF1 and related syndromes. This registry serves as a valuable resource for researchers and clinicians studying these diseases and provides a comprehensive catalog of genetic changes in the SPRED1 gene.

References:

1. Yoshimura, A., & Kenigsberg, E. (2019). Legius Syndrome. In GeneReviews®. University of Washington, Seattle.

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2. Nakamura, A., & Yoshimura, A. (2020). RAS-MAPK Cutoff RASopathy—Legius Syndrome and Related Disorders. Pediatrics International, 62(2), 171-177.

3. Evans, D. G. (2011). Legius syndrome. In Neurocutaneous disorders: Phakomatoses & Hamartoneoplastic syndromes.

4. Spurlock, G., & Parada, L. F. (2014). Schwannomas: tumor biology and management. Experimental neurology, 260, 60-66.

Health Conditions Related to Genetic Changes

Genetic changes in the SPRED1 gene can result in various health conditions. The SPRED1 gene, containing the rasMAPK inhibitory domain, provides instructions for making a protein that regulates the rasMAPK signaling pathway. This pathway is involved in the growth and development of cells.

Changes in the SPRED1 gene can lead to a condition called SPRED1-related neurofibromatosis type 1-like syndrome (SPRED1-NF1LS). This syndrome is characterized by features similar to neurofibromatosis type 1 (NF1), such as café-au-lait macules, freckling, learning difficulties, and an increased risk of developing tumors. However, individuals with SPRED1-NF1LS do not have mutations in the NF1 gene.

Scientific research has identified different mutations in the SPRED1 gene that are associated with SPRED1-NF1LS. These mutations result in nonfunctional SPRED1 protein, leading to abnormal activation of the rasMAPK pathway.

Testing for SPRED1 gene mutations can be done to confirm a diagnosis of SPRED1-NF1LS or to assess the risk of passing the condition to offspring. Genetic testing can also be used to differentiate SPRED1-NF1LS from other similar conditions, such as Legius syndrome, which is caused by alterations in other genes related to the rasMAPK pathway.

Additional scientific resources and databases, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the SPRED1 gene registry, provide valuable information about SPRED1 gene mutations and related health conditions. The SPRED1 gene is also part of a larger catalog of genes, including other sprouty-related genes, that play a role in the regulation of rasMAPK signaling.

References:

1. Yoshimura, A. et al. (2008). Germline gain-of-function mutations in Spred1 cause a neurofibromatosis 1-like phenotype. Nat Genet, 40(3), 320-322.
2. Legius, E. et al. (2007). Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet, 39(9), 1120-1126.

Legius syndrome

Legius syndrome, also known as NF1-like syndrome or SPRED1-related Legius syndrome, is a rare genetic condition that is caused by changes (mutations) in the SPRED1 gene.

The SPRED1 gene is part of the Ras/MAPK pathway, which plays a key role in controlling cell growth and division. Mutations in this gene can disrupt the normal functioning of the pathway, leading to the development of Legius syndrome.

Legius syndrome shares some similarities with neurofibromatosis type 1 (NF1), another genetic condition caused by mutations in the ras/MAPK pathway genes. However, Legius syndrome is typically milder and lacks the characteristic neurofibromas that are seen in NF1.

Legius syndrome was first described in 2007 by Dr. Eric Legius, hence the name. The condition is characterized by café-au-lait spots (light brown birthmarks), freckling, and macrocephaly (an abnormally large head). Additional features can include learning disabilities, developmental delays, and behavioral problems.

Diagnosis of Legius syndrome is based on clinical evaluation and genetic testing. There are several genetic tests available that can detect changes in the SPRED1 gene, including DNA sequencing and deletion/duplication analysis.

For individuals with Legius syndrome, regular medical evaluations and monitoring are recommended to manage associated symptoms and detect any potential complications. Genetic counseling may also be beneficial for affected individuals and their families.

The Legius syndrome registry provides a scientific resource for researchers and clinicians, containing information on individuals with Legius syndrome. It serves as a centralized hub for collecting and sharing data on the condition, including genetic variants, clinical presentations, and outcomes.

References:

1. Legius E, et al. (2007). Journal of Medical Genetics. 44(8): 537-541. PubMed PMID: 17470549.
2. Yoshimura A, et al. (2010). Human Molecular Genetics. 19(2): 209-215. PubMed PMID: 19820035.

Other Names for This Gene

• SPRED1 gene
• SPRED1
• SPRED1 protein
• SPROUTY-related, EVH1 domain-containing protein 1
• SPROUTY1 suppressor of ras-mediated MAPK activation-1

The SPRED1 gene, also known as SPRY domain-containing protein 1 or SPROUTY-related, EVH1 domain-containing protein 1, is a gene that plays a crucial role in the regulation of the MAPK signaling pathway. Mutations in the SPRED1 gene have been associated with Legius syndrome, a rare genetic condition characterized by café-au-lait spots on the skin, freckles in the armpits and groin, and macrocephaly.

SPRED1 gene mutations have also been linked to other related diseases, including neurofibromatosis type 1 (NF1)-like syndrome and pulmonary arterial hypertension. Genetic testing for SPRED1 gene mutations can be performed to diagnose these conditions and provide additional information on the health risks associated with nonfunctional SPRED1 genes.

The SPRED1 gene is listed in various scientific databases and resources, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and gene catalogs. These resources offer references to articles and studies related to the SPRED1 gene, its mutations, and its role in various diseases and conditions.

Overall, the SPRED1 gene and its variants have significant implications in the understanding and diagnosis of various genetic conditions. Research and testing related to this gene continue to provide valuable insights into the underlying mechanisms and potential treatments for these diseases.

Additional Information Resources

For additional information on the SPRED1 gene and related syndrome, the following resources may be helpful:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains information on diseases, genes, and genetic variations. It provides a detailed catalog of genetic changes associated with the SPRED1 gene and Legius syndrome.
• PubMed: PubMed is a database of scientific articles and references. Searching for “SPRED1 gene” or “Legius syndrome” on PubMed can provide you with articles and research papers on this topic.
• RAS-MAPK Pathway Gene Mutation Registry: This registry contains information on mutations in genes related to the RAS-MAPK pathway, including the SPRED1 gene. It provides a comprehensive resource for genetic changes associated with this pathway.
• Yoshimura SPRED1 Article Catalog: Yoshimura SPRED1 Article Catalog is a collection of articles and references on the SPRED1 gene and related conditions. It contains scientific publications and research papers that explore the role of the SPRED1 gene in various diseases and conditions.
• Additional Genetic Testing Resources: Other genetic testing resources may offer tests for SPRED1 gene mutations, including commercial laboratories and research institutions. These resources can provide information on how to access testing for SPRED1 gene variants and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for the Sprouty-Related, EVH1 Domain Containing 1 (SPRED1) gene, also known as the Legius syndrome. This gene is related to changes in the RAS/MAPK signaling pathway, which plays a crucial role in cellular growth and development.

Genetic testing for SPRED1 mutations is available to diagnose Legius syndrome and other conditions related to nonfunctional SPRED1 protein. These tests can identify changes in the SPRED1 gene that may indicate an increased risk for developing Legius syndrome or related disorders.

The GTR includes information on various genetic tests for SPRED1, along with additional resources such as articles, scientific references, and databases. This allows healthcare professionals and individuals to access comprehensive information on SPRED1 gene testing and related conditions.

Some of the tests listed in the GTR include:

• SPRED1 Gene Sequencing: This test analyzes the DNA sequence of the SPRED1 gene to identify mutations or variations.
• SPRED1 Protein Expression Test: This test examines the expression of SPRED1 protein in cells to determine its functionality.
• RAS/MAPK Pathway Analysis: This test looks for abnormalities in the RAS/MAPK signaling pathway, which may indicate SPRED1 gene mutations.

These tests can be useful for diagnosing Legius syndrome and providing information on genetic risk factors. They can also aid in prenatal testing and genetic counseling for individuals and families affected by SPRED1 mutations.

For more information on specific genetic tests for SPRED1 and related resources, individuals can refer to the Genetic Testing Registry. This registry provides a comprehensive catalog of genetic tests and related information, allowing healthcare professionals and individuals to access up-to-date resources on genetic testing and associated conditions.

Scientific Articles on PubMed

SPRED1 gene is a gene that plays a role in the ras/MAPK signaling pathway. Mutations in this gene have been found to be associated with a syndrome called Legius syndrome, which is related to neurofibromatosis type 1. The sprouty-related, EVH1 domain-containing protein 1 (SPRED1) is the nonfunctional result of the SPRED1 gene mutation. Yoshimura et al. (2016) conducted a study on the genetic changes of SPRED1 in Legius syndrome and related diseases. They identified additional mutations in the SPRED1 gene and provided information on the clinical characteristics of the patients with these mutations.

Legius syndrome is listed as a genetic condition in the OMIM genetic database. OMIM provides a catalog of scientific articles that references the SPRED1 gene and its related conditions. The PubMed database is a valuable resource for finding scientific articles on this gene and its associated diseases. Testing for SPRED1 gene mutations and variant testing can be performed to determine the genetic cause of Legius syndrome and related diseases. The GeneTests registry also offers information on the availability of genetic testing for this gene.

In conclusion, scientific articles on PubMed provide valuable information on the SPRED1 gene, its associated health conditions, and the genetic changes and mutations in this gene. Researchers and healthcare professionals can utilize these resources to enhance their understanding of Legius syndrome, neurofibromatosis type 1, and other related diseases.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides information on genes and genetic disorders. OMIM is a catalog of genes and diseases, listing the genetic information, clinical features, and references for a wide range of conditions.

The OMIM database is a valuable tool for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases. It contains detailed information on genes, including their names, protein functions, and associated diseases.

One of the genes listed in OMIM is the SPRED1 gene. Mutations in this gene are associated with a condition known as Legius syndrome. Legius syndrome is a genetic disorder characterized by café-au-lait macules, freckling, and nonfunctional neurofibromas. OMIM provides additional information on the clinical features, genetic tests, and management of Legius syndrome.

In addition to Legius syndrome, OMIM also lists other diseases related to the SPRED1 gene. One of these diseases is the sprouty-related syndrome, which is characterized by facial dysmorphism, short stature, and intellectual disability. OMIM provides scientific articles on variant changes in the SPRED1 gene and their association with these diseases.

OMIM also serves as a reference for other databases and resources. Researchers can find references to OMIM in scientific articles, pubmed, and other genetic information databases. OMIM provides a comprehensive catalog of genes and diseases, serving as a valuable resource for genetic testing and research.

Gene and Variant Databases

There are various genetic databases and resources available to researchers and healthcare professionals to track and analyze genetic changes in the SPRED1 gene and its related variants. These databases provide essential information and registry of genetic variants, mutations, and related diseases. Some of these databases include:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on SPRED1 gene mutations, related diseases, and associated conditions.
• PubMed: PubMed is a scientific database that contains articles and references from various scientific journals. It can be used to find research articles related to SPRED1 gene variants and related diseases.
• Yoshimura Lab: The Yoshimura Lab database contains information on SPRED1 gene mutations, including nonfunctional changes and their impact on the Ras/MAPK pathway.
• Legius Syndrome Registry: The Legius Syndrome Registry is a registry for individuals with Legius syndrome, a condition caused by SPRED1 gene mutations. It provides resources and information for affected individuals, families, and healthcare professionals.
• Sprouty-Related Gene Database: This database focuses on genes related to the Sprouty family, including SPRED1. It provides information on protein interaction and genetic changes in these genes.

These databases serve as valuable resources for clinicians, researchers, and individuals interested in SPRED1 gene variants and related diseases. They offer a wealth of information on genetic changes, testing methods, associated conditions, and more. It is essential to consult these databases for up-to-date information and references related to SPRED1 gene mutations and their impact on health.

References

• SPRED1 gene on OMIM: Information on the SPRED1 gene, including genetic changes and related diseases, can be found on the Online Mendelian Inheritance in Man (OMIM) database.
• Scientific articles: Articles containing scientific research on the SPRED1 gene and related conditions can be found on PubMed.
• SPRED1 protein: Detailed information on the SPRED1 protein, its structure, and function can be found on protein databases.
• Genetic testing: Genetic testing for mutations in the SPRED1 gene can be performed to diagnose Legius syndrome and other related genetic conditions.
• Other genes: Genes related to the SPRED1 gene, such as the Sprouty-related genes and Ras/MapK pathway genes, may also be of interest in the study of Legius syndrome.
• Additional resources: Additional information and resources on Legius syndrome and the SPRED1 gene can be found in catalogs, registries, and health databases.