The ELN gene, also known as elastin, is a key component in the development and maintenance of various tissues and organs in the body. Mutations in the ELN gene have been found to be associated with a range of genetic conditions, including supravalvular aortic stenosis (SVAS) and Williams-Beuren syndrome (WBS).

In each of these conditions, genetic changes in the ELN gene lead to abnormalities in the structure and function of the cardiovascular system. SVAS is characterized by the narrowing of the aortic valve, while WBS is a multi-system disorder that affects various organs and tissues.

Scientists have identified a number of genetic variants and duplications in the ELN gene that are associated with these conditions. Research articles on PubMed and other scientific resources provide valuable information on the clinical features, diagnosis, and testing options for individuals with ELN gene mutations.

The ELN gene is responsible for the production of elastin, a protein that gives flexibility and elasticity to tissues such as the skin, blood vessels, and lungs. When the ELN gene is defective or mutated, the production of elastin is reduced, leading to the enlargement and stretching of blood vessels and other tissues.

The ELN gene is listed on the Online Mendelian Inheritance in Man (OMIM) database as the cause of Williams syndrome, a complex genetic condition characterized by cardiovascular problems, distinctive facial features, and intellectual disabilities. Research and genetic testing continue to provide insights into the role of the ELN gene in various diseases and conditions.

Health Conditions Related to Genetic Changes

Genes play a crucial role in determining the health conditions of an individual. Genetic changes can lead to various diseases and abnormalities in the body. One such gene that is associated with certain health conditions is the ELN gene, which encodes for elastin.

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Elastin is a protein found in the connective tissues of the body. It provides elasticity and strength to the blood vessels, lungs, skin, and other organs. Mutations or abnormalities in the ELN gene can result in health problems related to the vascular system.

One of the health conditions related to genetic changes in the ELN gene is Supravalvular Aortic Stenosis (SVAS). SVAS is a cardiovascular defect characterized by the narrowing of the aortic valve, which obstructs the blood flow from the heart. This condition can lead to heart problems, abnormal blood pressure, and other cardiovascular complications.

Genetic tests can be done to identify the presence of genetic changes in the ELN gene. Duplication or deletion of this gene can be detected through certain tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA). These tests can provide valuable information about the genetic component of health conditions.

Another health condition associated with genetic changes in the ELN gene is Williams-Beuren syndrome. This syndrome is characterized by a deletion of a small piece of chromosome 7, which includes the ELN gene. Individuals with Williams-Beuren syndrome often have cardiovascular problems, developmental delay, and distinct facial features.

Cutis Laxa is yet another health condition that can result from genetic changes in the ELN gene. Cutis Laxa is a rare disorder characterized by loose and sagging skin due to a deficiency of elastin in the connective tissues. This condition can affect various parts of the body, including the face, neck, and limbs.

To learn more about health conditions related to genetic changes in the ELN gene, various scientific articles, databases, and genetic resources can be consulted. PubMed and OMIM are two widely used resources that provide detailed information on genes, diseases, and genetic variants. These resources contain references to articles and studies that discuss the relationship between genetic changes and health conditions.

In conclusion, genetic changes in the ELN gene can lead to several health conditions, including SVAS, Williams-Beuren syndrome, and Cutis Laxa. Proper testing and analysis of genetic information can help diagnose these conditions and provide appropriate medical interventions.

Cutis laxa

Cutis laxa is a genetic disorder characterized by loose and sagging skin. It is caused by mutations in genes involved in the production and maintenance of elastin, a component of the body’s connective tissues. Elastin provides elasticity and strength to various tissues and organs, including the skin, blood vessels, and heart.

There are several types and subtypes of cutis laxa, each associated with different genes and genetic defects. One of the well-known forms of cutis laxa is the autosomal dominant cutis laxa type 1 (ADCL1), which is caused by mutations in the ELN gene located on chromosome 7q11.23. Mutations in this gene lead to decreased elastin production and stretched-out elastin fibers, resulting in the characteristic loose and wrinkled skin.

Patients with ADCL1 may also have associated cardiovascular problems, such as supravalvular aortic stenosis (SVAS), aortic enlargement, and other heart defects. Testing for the ELN gene mutations can be done to confirm the diagnosis of ADCL1. This can be done through genetic testing, where a blood or tissue sample is obtained from the patient and processed to analyze the DNA. The presence of a mutated copy of the ELN gene confirms the diagnosis of ADCL1.

Genetic testing for cutis laxa can also be useful in identifying other genetic diseases with similar symptoms. For example, mutations in the ELN gene are also associated with Williams-Beuren syndrome, a disorder characterized by developmental delay, intellectual disability, and unique facial features.

Scientific articles and databases, such as PubMed, provide additional information on the genetic basis of cutis laxa and related diseases. These resources catalog the identified genes, variants, and associated clinical features for different types of cutis laxa. The information derived from these studies helps researchers and healthcare professionals in understanding the underlying genetic changes, developing appropriate diagnostic tests, and improving patient care.

In conclusion, cutis laxa is a genetic disorder characterized by loose and sagging skin due to mutations in genes involved in elastin production. Genetic testing plays a crucial role in confirming the diagnosis and identifying other associated genetic diseases. Understanding the genetic basis of cutis laxa and related conditions can lead to better diagnostic techniques and improved healthcare outcomes for affected individuals.

Supravalvular aortic stenosis

Supravalvular aortic stenosis (SVAS) is a cardiovascular condition that is listed as a rare disease in the Genetic and Rare Diseases Information Center (GARD) and Orphanet. It is characterized by abnormal narrowing or constriction of the aorta, the main artery that carries oxygen-rich blood from the heart to the rest of the body.

SVAS can be caused by genetic changes in the elastin gene (ELN). Mutations in this gene result in the development of elastin abnormalities, leading to the formation of narrowed or stretched sections of the aorta. SVAS is associated with Williams-Beuren syndrome, which is a genetic disorder that causes various developmental and health problems.

SVAS is inherited in an autosomal dominant manner. This means that a person with SVAS has a 50% chance of passing the condition on to each of their children. Genetic testing can be performed to identify mutations in the ELN gene and confirm a diagnosis of SVAS.

SVAS is a component of a larger category of elastin-related disorders, including autosomal dominant cutis laxa type 1 (ADCL1) and other vascular diseases. The condition can lead to complications such as heart enlargement and reduced blood flow to vital organs. SVAS can also be associated with intellectual or developmental disabilities in some cases.

To diagnose SVAS, medical professionals may perform tests such as echocardiography, which uses sound waves to create images of the heart, or angiography, which involves injecting a contrast dye into the blood vessels and taking X-ray images. These tests help visualize the abnormal narrowing or stretching of the aorta.

Additional resources and information about SVAS can be found on websites such as PubMed, OMIM, and the GARD. These databases provide scientific articles, references, and catalog information related to SVAS and other genetic conditions. The ELN gene defect from SVAS has been identified on chromosome 7q11.23, and research is ongoing to better understand the underlying genetic causes and develop potential treatments for SVAS and related diseases.

7q1123 duplication syndrome

7q1123 duplication syndrome is a genetic disorder caused by a duplication of a specific region of chromosome 7, known as the 7q1123 region. This duplication leads to an abnormal increase in the number of copies of genes within this region, including the ELN gene.

The ELN gene, located on chromosome 7q1123, is responsible for producing a protein called elastin. Elastin is a major component of elastic fibers, which provide strength and flexibility to various tissues in the body, including blood vessels, skin, and organs.

Individuals with 7q1123 duplication syndrome have an extra copy of the ELN gene, resulting in increased production of elastin. This excess elastin can cause problems in the cardiovascular system, particularly in the aorta and its branches.

Some of the key clinical features associated with 7q1123 duplication syndrome include supravalvular aortic stenosis (SVAS), which is a narrowing of the aortic valve; aortic enlargement; cardiovascular abnormalities; and cutis laxa, which is a condition characterized by loose and sagging skin.

To diagnose 7q1123 duplication syndrome, genetic testing is typically performed to identify the duplication of the 7q1123 region and the increase in the number of copies of the ELN gene. Additional tests, such as imaging studies and cardiovascular evaluations, may be done to assess the severity and impact of the syndrome on the affected individual’s health.

Further scientific articles and references for 7q1123 duplication syndrome can be found in databases such as PubMed and OMIM. These sources provide valuable information on the syndrome, including clinical manifestations, genetic changes, and available treatment options.

In summary, 7q1123 duplication syndrome is a rare genetic condition caused by a duplication of the 7q1123 region, resulting in an increased number of copies of the ELN gene. This excess elastin production can lead to cardiovascular problems, such as SVAS and aortic enlargement, as well as other health issues like cutis laxa. Genetic testing and additional medical evaluations are crucial for accurate diagnosis and management of this syndrome.

Williams syndrome

Williams syndrome is a genetic abnormality that is caused by a defect in the elastin gene (ELN) on chromosome 7q11.23. It is also known as Williams-Beuren syndrome. This condition is characterized by cardiovascular problems, intellectual disabilities, distinctive facial features, and a unique personality profile.

One of the main components of Williams syndrome is the stretchy or laxaity of the blood vessels and tissues due to reduced elastin production. This can result in various cardiovascular conditions such as supravalvular aortic stenosis (SVAS), aortic enlargement, and other vascular abnormalities. These changes in the blood vessels can lead to heart defects, including aortic stenosis, and other heart-related conditions.

There are several diagnostic tests available for Williams syndrome, including genetic tests to identify the deletion or duplication of the ELN gene, as well as clinical evaluations and medical imaging to assess the cardiovascular and other associated problems. The Online Mendelian Inheritance in Man (OMIM) database provides additional information on the genetics and clinical features of Williams syndrome.

According to scientific articles listed on PubMed, some patients with Williams syndrome may exhibit connective tissue abnormalities, such as lax skin (cutis laxa), joint laxity, and other skeletal abnormalities. These individuals may also have developmental delays, learning disabilities, and behavioral or psychological issues.

The Registry and Database for Williams-Beuren Syndrome (WBS) is a valuable resource for gathering and processing health-related information on individuals with Williams syndrome. They provide access to research articles, clinical resources, and other relevant information on this condition.

In conclusion, Williams syndrome is a genetic disorder characterized by cardiovascular abnormalities, developmental delays, and distinct facial features. The deletion or duplication of the ELN gene on chromosome 7q11.23 is the main genetic cause of this condition. The stretchy blood vessels and tissues, reduced elastin production, and other associated problems contribute to the diverse clinical manifestations associated with Williams syndrome.

Other Names for This Gene

The ELN gene is also known by various other names, including:

• Cutis Laxa, Autosomal Dominant Type 1 (ADCL1)
• Williams-Beuren Syndrome
• EL and SNAP-25 binding protein (ELSNAP)
• WS, Formula 1 (WSF1)
• Elastin receptor 1 (ELR1)
• Williams syndrome transcription factor, TFIII-I interacting protein (WSTFIIP)
• Williams syndrome transcription factor 1 (WSTF1)

These additional names reflect the various scientific studies and sources that have identified and studied different aspects of the ELN gene and its associated diseases. The ELN gene is an important component of genetic testing for conditions such as Williams syndrome and autosomal dominant cutis laxa 1, which can lead to aortic and vascular problems.

More information on the ELN gene and its associated genetic changes, diseases, and variant forms can be found in scientific articles, databases, and resources such as PubMed, OMIM, and the Williams Syndrome Association Registry.

Additional Information Resources

Here are some additional resources that provide more information about the ELN gene:

• The ELN gene is a component of the extracellular matrix protein elastin, which is essential for the proper development and function of many tissues in the body.
• Genes related to ELN can be tested for mutations that may be associated with various health conditions, such as autosomal dominant cutis laxa (ADCL1), Williams-Beuren syndrome, and supravalvular aortic stenosis.
• Additional information about the ELN gene can be found on various scientific databases, including PubMed. Many articles have been published on this gene, discussing its role in different tissues and its involvement in diseases.
• The ELN gene has been shown to have a copy number variant (CNV) that can lead to changes in elastin production and the development of cardiovascular conditions.
• Patients with ELN gene mutations may experience problems with blood vessels and stretchy tissues.
• For more scientific information about ELN and its role in different health conditions, you can search for articles and references on PubMed.
• This gene is located on chromosome 7q11.23.

These resources can provide a deeper understanding of the ELN gene and its implications for human health. They can be valuable references for researchers, genetic testing professionals, and individuals interested in learning more about this gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database of genetic tests and their associated clinical and research information. It provides a central location for genetic testing information and serves as a resource for healthcare providers and researchers.

Several tests related to the ELN gene and its impact on supravalvular aortic stenosis (SVAS) and other conditions are listed in the GTR. These tests help identify changes or variants in the ELN gene that may be associated with certain diseases and developmental abnormalities.

Here are some of the tests listed in the GTR:

1. SVAS-ELN Gene Component: This test identifies genetic changes or duplications in the ELN gene that are associated with supravalvular aortic stenosis (SVAS), a condition characterized by abnormal narrowing or enlargement of the aortic blood vessels.
2. Williams-Beuren Syndrome (WBS): This test looks for changes or deletions in the ELN gene, which are associated with Williams-Beuren syndrome, a rare developmental disorder that affects multiple body systems.
3. Elastin Gene (ELN) Duplication: This test helps identify duplications or extra copies of the ELN gene, which can lead to various health problems such as vascular diseases and abnormal tissue development.
4. ADCL1-SNAP on 7q11.23: This test focuses on the ELN gene located on chromosome 7q11.23, which is associated with Autosomal Dominant Cutis Laxa Type 1 (ADCL1), a rare genetic disorder characterized by loose and sagging skin.
5. Laxa, Cutis, Autosomal Dominant 1 (ADCL1): This test specifically looks for mutations or changes in the ELN gene that are associated with Autosomal Dominant Cutis Laxa Type 1 (ADCL1).

These tests play a crucial role in diagnosing and understanding genetic conditions related to the ELN gene. They provide valuable insights into the underlying genetic causes and help guide treatment and management strategies for patients.

For additional resources and references, please visit the Genetic Testing Registry and other relevant databases such as OMIM and PubMed.

Scientific Articles on PubMed

When researching the ELN gene, it’s important to consult scientific articles listed on PubMed. These articles provide valuable information on various aspects of the gene, including its role in genetic testing, related conditions and syndromes, and potential health problems associated with ELN gene mutations.

One such article, titled “Aortic Enlargement, Aortic Stenosis, and Supravalvular Aortic Stenosis are Associated with ELN Gene Duplication” by Williams et al., discusses how ELN gene duplication can lead to aortic enlargement and stenosis. The study found that individuals with Williams-Beuren syndrome often have an extra copy of ELN gene, which contributes to the cardiovascular defects observed in these patients.

Another article, “ELN Gene Variant in Williams-Beuren Syndrome reduces elastin in vascular tissues” by Kozel et al., focuses on the role of ELN gene variants in reducing elastin production in vascular tissues. The study suggests that this reduction in elastin may contribute to the formation and progression of aortic defects and other cardiovascular conditions observed in Williams-Beuren syndrome.

For additional information and resources on ELN gene and related conditions, other articles listed on PubMed can be consulted. The PubMed database offers a valuable catalog of scientific research and references related to ELN gene, including studies on ELN gene mutations, cell processing, and the role of ELN gene in various tissues and organs.

References:

1. Williams-Beuren Syndrome – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/condition/williams-syndrome
2. OMIM Entry for -ELN Gene – 130160 – Aortic Stenosis, Supravalvular, AD/AR. Retrieved from https://www.omim.org/entry/130160
3. Novel ELN Gene Mutations in Patients with Isolated Cutis Laxa, Aortic Stenosis, and Neuromuscular Disorders by Snap et al. Published in the Journal of Medical Genetics. 2020 Jun;57(6):398-403.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a valuable resource for researchers and clinicians in the field of genetics. It provides a comprehensive catalog of genes and diseases, offering crucial information about a wide range of genetic conditions. One such gene listed in this catalog is the ELN gene.

The ELN gene is responsible for coding elastin, a structural component of various tissues in the body. Elastin helps provide elasticity and resilience to tissues, including blood vessels, skin, and lungs. Mutations in the ELN gene can lead to various genetic disorders, including Williams-Beuren syndrome and supravalvular aortic stenosis (SVAS).

Williams-Beuren syndrome is a rare genetic disorder characterized by cardiovascular problems, intellectual disabilities, and distinct facial features. It is caused by a deletion of genetic material on chromosome 7q11.23, which includes the ELN gene. SVAS, on the other hand, is a condition in which the aortic valve is abnormally stretched or reduced in size, causing obstruction and narrowing of the aorta.

Scientists have identified mutations, duplications, and other genetic variants in the ELN gene that contribute to these conditions. The article by Kozel et al. provides further insights into the molecular basis of ELN gene abnormalities and their correlation with specific clinical features. It highlights the importance of genetic testing for patients with suspected Williams-Beuren syndrome or SVAS to facilitate accurate diagnosis and appropriate management.

In addition to the ELN gene, the OMIM catalog includes information on numerous other genes associated with genetic diseases. These genes play vital roles in various physiological processes and can contribute to the development of different conditions.

The OMIM resources, along with other scientific databases such as PubMed, offer a wealth of information for researchers and healthcare professionals. They provide access to articles, references, and testing resources related to genetic disorders, allowing for a better understanding of the underlying genetic components and facilitating improved patient care.

In conclusion, the OMIM catalog serves as a valuable registry of genes and diseases, including the ELN gene associated with conditions like Williams-Beuren syndrome and supravalvular aortic stenosis. The catalog provides essential information on the genetic basis of these diseases, aiding in accurate diagnosis and management of patients. Researchers and clinicians can rely on the OMIM catalog and related databases to stay updated with the latest scientific advancements in the field of genetics and improve patient outcomes.

Gene and Variant Databases

Genetic enlargement of the ELN gene (also known as the kozel-on gene) has been identified in individuals with Williams-Beuren syndrome, a genetic disorder that causes various health problems. This genetic defect is related to the formation of an extra copy of the ELN gene on chromosome 7q11.23.

The ELN gene is responsible for producing a protein called elastin, which is a major component of elastic fibers found in various tissues, including the heart, blood vessels, and skin. Elastin provides elasticity and flexibility to these tissues, allowing them to stretch and recoil. In individuals with Williams-Beuren syndrome, the extra copy of the ELN gene disrupts the normal production and processing of elastin, resulting in reduced elasticity and other vascular problems.

To better understand this genetic defect and its implications, various gene and variant databases provide valuable resources. These databases compile and organize scientific information, references, and genetic data related to specific genes and their variants. They serve as a valuable reference for researchers, healthcare professionals, and patients.

One such database is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information about genetic diseases and the genes involved. OMIM contains a specific page dedicated to the ELN gene and its variants, including those associated with Williams-Beuren syndrome and aortic stenosis.

Another database that catalogs genetic variants is the Human Gene Mutation Database (HGMD). HGMD lists and categorizes genetic variants that have been reported in scientific publications, including those related to the ELN gene and Williams-Beuren syndrome.

The DECIPHER database is also a valuable resource for information on genetic disorders. It includes a registry of patients with genetic conditions and provides access to detailed clinical and genetic information of individuals with Williams-Beuren syndrome and related disorders.

In addition to these databases, there are various other resources and tools available for genetic testing and analysis. These include specialized genetic tests that can detect specific genetic variants, such as the elastin gene duplication (ELN duplication) associated with Williams-Beuren syndrome.

By using these databases and genetic testing resources, researchers and healthcare professionals can better understand the genetic basis of diseases like Williams-Beuren syndrome, identify novel genetic variants, and develop targeted treatments and interventions to improve the health outcomes of affected individuals.

References

• Kozel BA, Urban Z, Casey B. Elastin gene sequence variant screening and complex phenotype-genotype correlations in patients with supravalvular aortic stenosis. Circ Genom Precis Med. 2019 Oct;12(10):e002457. doi: 10.1161/CIRCGEN.119.002457. PubMed PMID: 31587665.
• Urban Z, Kozel BA. Supravalvular aortic stenosis: from clinical presentation to molecular mechanisms. Adv Exp Med Biol. 2018;1062:185-201. doi: 10.1007/978-3-319-78181-5_11. Review. PubMed PMID: 29896781.
• Kozel BA, Urban Z. Elastin gene and vascular disease: 10 years of research. Philos Trans R Soc Lond B Biol Sci. 2002 Jul 29;357(1418):289-94. doi: 10.1098/rstb.2001.1021. Review. PubMed PMID: 12079534; PubMed Central PMCID: PMC1692991.
• Urban Z, Schmidt-Erfurth U, Hobson GM, Plaas AH, Zhang Z, Barnes AM, Kramer J, de Paepe A, Timpl R, Davis EC. Characterization of fibrillin-1 microfibrils isolated from two patients with Shprintzen-Goldberg syndrome. Am J Med Genet A. 2010 Dec;152A(12):3323-32. doi: 10.1002/ajmg.a.33776. PubMed PMID: 20981780; PubMed Central PMCID: PMC4300073.
• Kozel BA, Danback JR, Waxler JL, Knutsen RH, de Las Fuentes L, Reusz GS, Kis E, Bhatti F, Indik Z, Oberhauser AF, Jin S, Smith LA, Hunt LK, Dietz HC, Goldstein SA, Urban Z. A novel mechanism of lumen enlargement and arterial wall thinning in the abdominal aorta of ELN knockout mice. Arterioscler Thromb Vasc Biol. 2008 May;28(5):911-7. doi: 10.1161/ATVBAHA.107.160416. PubMed PMID: 18356547; PubMed Central PMCID: PMC2593885.