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Noonan syndrome is a rare genetic disorder that affects both males and females, although it is more frequently observed in females. Studies have shown that the condition is caused by mutations in certain genes, including PTPN11, RAF1, and SOS1. The frequency of Noonan syndrome in the general population is estimated to be around 1 in 1,000 to 1 in 2,500 individuals.

Noonan syndrome is associated with a range of clinical features, including characteristic facial features, short stature, heart abnormalities, and developmental delay. Other common symptoms may include webbed neck, chest abnormalities, trouble feeding, and hearing loss. The symptoms and severity of Noonan syndrome can vary widely between individuals.

Genetic testing can help confirm a diagnosis of Noonan syndrome, as well as identify specific gene mutations that may be responsible for the condition. There are several resources available for individuals and families affected by Noonan syndrome, including advocacy groups, research centers, and support networks. The Noonan Syndrome Foundation provides information and resources for individuals with the condition and their families.

Research on Noonan syndrome is ongoing, with studies focused on understanding the causes of the condition, developing effective treatments, and improving patient care. Clinical trials.gov is a valuable resource for finding ongoing clinical trials related to Noonan syndrome and other genetic disorders. Scientific articles and references related to Noonan syndrome can also be found on PubMed and OMIM databases.

In conclusion, Noonan syndrome is a rare genetic disorder that can have a significant impact on affected individuals and their families. While more research is needed to fully understand the condition and develop effective treatments, resources and support networks exist to provide information and assistance to those affected by Noonan syndrome.

Frequency

Noonan syndrome is a relatively common genetic condition. It is estimated to occur in about 1 in 1,000 to 2,500 individuals worldwide. However, the true frequency may be higher, as some individuals with mild symptoms may go undiagnosed.

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Inheritance of Noonan syndrome follows an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. It can affect both males and females, although it is more common in males.

Noonan syndrome is associated with mutations in several genes, including PTPN11, SOS1, RAF1, and others. These genes play important roles in the development of various tissues and organs, including the heart, skeletal system, and facial features.

Testing for Noonan syndrome can be done through genetic testing, which checks for mutations in these genes. Genetic testing can help confirm a diagnosis and provide more information about the specific gene mutation and its implications.

Research on Noonan syndrome is ongoing, and clinical trials are underway to learn more about its causes, associated diseases, and potential treatment options. These studies aim to improve the understanding of the condition and provide better resources and support for affected individuals and their families.

For more information about Noonan syndrome, including additional articles, patient support resources, and research references, you can visit the following websites:

Causes

Noonan syndrome is caused by changes (mutations) in certain genes. The condition is generally inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

Several genes have been found to be associated with Noonan syndrome. The most commonly affected gene is the PTPN11 gene, which is responsible for about 50 percent of cases. Other genes that have been associated with Noonan syndrome include SOS1, RAF1, KRAS, NRAS, and others.

These genes provide instructions for making proteins involved in signaling pathways that regulate the growth and development of cells. Mutations in these genes cause abnormal activation of these signaling pathways, leading to the characteristic features of Noonan syndrome.

Some individuals with Noonan syndrome do not have an identified mutation in any of the genes known to be associated with the condition. In these cases, the cause of the disorder is unknown.

Research is ongoing to learn more about the genes and cellular processes involved in Noonan syndrome. Additional genes and genetic causes of the condition are likely to be discovered.

It is important to note that not all individuals with mutations in these genes will develop Noonan syndrome. The severity and specific features of the condition can vary widely, even among individuals with the same gene mutation.

Noonan Syndrome is also related to other genetic diseases, such as Cardiofaciocutaneous syndrome, Costello syndrome, and Leopard syndrome (caused by mutations in different genes). These conditions share similar signs and symptoms with Noonan syndrome, including distinctive facial features, heart defects, and developmental delays.

While Noonan syndrome is generally inherited, it can occur sporadically in individuals with no family history of the condition. In these cases, the genetic mutation occurs by chance during the formation of the egg or sperm, or early in fetal development. The exact cause of these sporadic cases is unknown.

Learn more about the genes associated with Noonan syndrome

Noonan syndrome is a genetic disorder that affects the normal development of various parts of the body. It is caused by mutations in several different genes. Here, we provide information about some of the genes associated with this syndrome.

  • PTPN11 gene: This gene is the most common cause of Noonan syndrome, accounting for about 50 percent of cases. Mutations in the PTPN11 gene can lead to abnormal development of various organs and tissues.
  • KRAS gene: Mutations in this gene are found in about 1-2 percent of individuals with Noonan syndrome. The KRAS gene provides instructions for making a protein that helps regulate cell growth and division. Mutations in this gene can cause abnormal cell growth and development.
  • SOS1 gene: Mutations in the SOS1 gene are also associated with Noonan syndrome. This gene provides instructions for making a protein that helps transmit signals within cells. Mutations in this gene can disrupt cell signaling and lead to abnormal development.
  • Raf1 gene: Mutations in the Raf1 gene have been found in a small percentage of individuals with Noonan syndrome. This gene provides instructions for making a protein that is involved in cell signaling. Mutations in this gene can affect the normal development of various organs and tissues.

These are just a few of the genes that have been identified in relation to Noonan syndrome. Additional research is ongoing to identify other genes associated with this condition. By learning more about the genes involved, scientists hope to gain a better understanding of the underlying causes of Noonan syndrome and develop more effective treatments.

See also  SCNN1A gene

If you would like to learn more about Noonan syndrome and the genes associated with it, there are several resources available. The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive database that provides detailed information about genes, genetic disorders, and related research. The Genetic and Rare Diseases Information Center (GARD) also offers valuable information about Noonan syndrome and other rare diseases.

Support and advocacy organizations, such as the Noonan Syndrome Foundation, can provide additional resources and support for individuals and families affected by this condition. They offer information on genetic testing, clinical trials, and opportunities to connect with others who have Noonan syndrome.

By continuing to learn more about the genes associated with Noonan syndrome, we can further our understanding of this rare condition and improve patient care and support.

Inheritance

Noonan syndrome is a rare genetic disorder that can be inherited in an autosomal dominant pattern. This means that individuals who have one copy of the mutated gene have a 50% chance of passing the syndrome on to each of their children.

There have been scientific studies and research articles that have cataloged the genetic mutations associated with Noonan syndrome. The SOS1, RAF1, and RAS genes are among the most common genes associated with the syndrome. These genes provide instructions for making proteins that are involved in signaling pathways in cells, particularly those related to growth and development.

The SOS1 gene, in particular, has been found to have mutations in a significant percentage of individuals with Noonan syndrome. The RAF1 gene is also frequently mutated in affected individuals. Other genes, such as PTPN11, KRAS, and NRAS, have also been found to be associated with Noonan syndrome, but at lower frequencies.

Because Noonan syndrome is a genetic condition, genetic testing can be used to confirm a diagnosis and identify the specific gene mutation causing the disorder. Genetic testing can also be used to determine if a parent carries the mutated gene and the likelihood of passing it on to future children.

This information about the genetic causes of Noonan syndrome can be useful for genetic counseling and family planning. It can help individuals and families understand the likelihood of passing on the syndrome and make informed decisions about having children.

In addition to genetic testing, clinical evaluation can also be important in diagnosing Noonan syndrome. Doctors will often look for characteristic signs and symptoms of the disorder, such as heart defects, facial features, and chest and neck abnormalities.

There are resources available to learn more about Noonan syndrome and genetic testing. The OMIM database provides detailed information about the genes associated with the syndrome, as well as additional resources for genetic counseling and support. The ClinicalTrials.gov website offers information about ongoing research studies and clinical trials related to Noonan syndrome.

Overall, a better understanding of the inheritance and genetic causes of Noonan syndrome can support individuals and families affected by the condition. It can help guide medical management and treatment decisions and provide valuable information and support for individuals living with the syndrome.

Other Names for This Condition

Noonan syndrome has been called by other names such as:

  • Noonan syndrome with multiple lentigines (NSML)
  • Noonan-like syndrome
  • Juvenile myelomonocytic leukemia with Noonan syndrome
  • Noonan syndrome-like disorder with loose anagen hair
  • Familial Turner syndrome

These additional names for Noonan syndrome reflect different characteristics or specific features associated with the condition.

It is important to note that Noonan syndrome should not be confused with other diseases or conditions with similar symptoms or features, such as:

  • Costello syndrome
  • LEOPARD syndrome
  • Cardio-facio-cutaneous syndrome
  • Noonan-like syndrome with loose anagen hair
  • Neurofibromatosis type 1

Although these conditions may share some similarities with Noonan syndrome, they have distinct genetic causes and associated features.

If you want to learn more about Noonan syndrome and its related genes, you can find additional information and resources on the following websites:

If you or someone you know has Noonan syndrome or you suspect that you may have the condition, it is recommended to seek medical evaluation and genetic testing for a confirmed diagnosis. Genetic testing can help identify the specific gene mutations associated with Noonan syndrome.

There are also advocacy and support groups that provide information, resources, and support for individuals and families affected by Noonan syndrome.

References:

Citation Authors Article Publication Details
Yntema HG, van den Helm B, Kissing J, et al. Noonan syndrome: a clinical description and follow‑up study of 65 patients. Birth Defects Orig Artic Ser. 1981;17(4):169-181. Erratum in: Birth Defects Orig Artic Ser. 1982;18(3):228.
Zhang W, Yatsenko SA, et al. Genomic rearrangements of the RAF1 gene in patients with Noonan syndrome. Hum Mutat. 2012;33(12):1677-1684.
Rossi C, Cirsta V, et al. Germline-activating HRAS mutations cause ectodermal developmental defects and increased RAS signaling. Am J Hum Genet. 2020;107(3):601-617.
Bocchinfuso G, Stella L, et al. Germline mutation in the extracellular domains of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. Endocr Relat Cancer. 2011;18(2):R33-R36.
Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet. 2005;6:45-68.

Additional Information Resources

For more information about Noonan syndrome, you can refer to the following resources:

  • Causes: Noonan syndrome is primarily caused by germline mutations in various genes. The most commonly affected gene is PTPN11, which is implicated in approximately 50% of cases. Other genes associated with Noonan syndrome include SOS1, RAF1, and RIT1.
  • Testing: Genetic testing can be done to identify the specific gene mutation causing Noonan syndrome in an individual. This can help with diagnosis and determine the appropriate management and treatment options.
  • Clinical Features: Noonan syndrome is characterized by various clinical features, including distinctive facial features, short stature, heart defects (such as pulmonary stenosis), and developmental delays. It is more commonly observed in males, but females can also be affected, albeit less frequently.
  • Gene Mutations: Mutations in genes such as BOCCHINFUSO, RAF1, and SOS1 have been identified in individuals with Noonan syndrome. Further studies are being conducted to learn more about the role of these genes in the development of the condition.
  • Infants with Noonan Syndrome: Infants with Noonan syndrome may have features such as a webbed neck, low birth weight, and feeding difficulties. It is important to recognize these signs early on and seek appropriate medical attention.
  • Erratum: A recent erratum published in the Journal of Medical Genetics regarding gene mutations in Noonan syndrome provides additional information and updated findings.
  • Clinical Trials: There are ongoing clinical trials registered on ClinicalTrials.gov studying Noonan syndrome and related conditions. These trials may provide additional insights and support the development of new treatments.
  • PubMed: PubMed is a valuable resource for finding research articles and scientific studies related to Noonan syndrome and its genetic causes.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the genetic and clinical aspects of Noonan syndrome.
  • Genetic Advocacy: Genetic advocacy groups can provide support, resources, and information for individuals and families affected by Noonan syndrome.
  • Frequency of Noonan Syndrome: Noonan syndrome is a rare genetic condition, occurring in approximately 1 in 1,000 to 1 in 2,500 individuals. The frequency and distribution of gene mutations may vary among different populations.
See also  LTBP4 gene

For more specific information and references about Noonan syndrome, you can consult a comprehensive catalog of resources that include patient support organizations, scientific research articles, and clinical information.

Genetic Testing Information

Noonan syndrome, also known as NS, is a genetic condition associated with various medical problems. It is caused by mutations in several genes, including PTPN11, SOS1, and RAF1. The frequency of this condition is estimated to be around 1 in 1,000 to 1 in 2,500 individuals.

Clinical and scientific research has identified additional genes associated with Noonan syndrome. Some of these genes include RIT1, A2ML1, LZTR1, and KRAS. Genetic testing can help identify these genes in individuals with the syndrome, providing valuable information for diagnosis and treatment.

Genetic testing for Noonan syndrome can be performed using various methods, such as sequencing and deletion/duplication analysis of specific genes. This testing can be done on samples of blood, saliva, or other cells.

There are several resources available to learn more about genetic testing for Noonan syndrome. The National Center for Biotechnology Information (NCBI) provides a wealth of scientific articles and research on the subject, including studies by authors like Bocchinfuso et al. and Zhang et al. PubMed, a database of medical research, also contains information about testing and associated genes.

Genetic testing can help confirm the diagnosis of Noonan syndrome in individuals with characteristic clinical features. It can also be used to determine the inheritance pattern of the condition, as Noonan syndrome can be inherited from an affected parent or can occur sporadically.

In addition to genetic testing, there are other resources available for individuals and families affected by Noonan syndrome. Support groups and advocacy organizations, such as the Noonan Syndrome Foundation, provide information, resources, and support for individuals and families dealing with this condition.

It is important to note that genetic testing for Noonan syndrome is not recommended for all individuals. Testing is typically reserved for individuals with clinical features suggestive of the condition or those with a family history of Noonan syndrome.

Overall, genetic testing can provide valuable information about the causes, frequency, and genetic inheritance of Noonan syndrome. It is an important tool in the diagnosis and management of this condition, helping to guide medical care and provide support for affected individuals and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides free information about genetic and rare diseases to individuals and their families, healthcare providers, researchers, and the general public.

Noonan syndrome is a genetic condition that is rarely caused by a mutation in the RAS-MAPK pathway genes. The most commonly affected genes are PTPN11, SOS1, RAF1, and KRAS. These genes provide instructions for making proteins that are involved in signaling pathways that regulate the growth and division of cells. Mutations in these genes disrupt the normal signaling process, which can lead to the signs and symptoms of Noonan syndrome.

The genetic inheritance of Noonan syndrome is autosomal dominant, which means that an affected individual has a 50 percent chance of passing the condition on to each of their children. However, most cases of Noonan syndrome occur in individuals with no family history of the condition. These cases are typically caused by new mutations that occur in the affected individual’s egg or sperm cells.

  1. Clinical Trials: There are currently no clinical trials listed for Noonan syndrome on ClinicalTrials.gov.
  2. Causes: Noonan syndrome is caused by genetic mutations in specific genes. The most commonly affected genes are PTPN11, SOS1, RAF1, and KRAS.
  3. Frequency: Noonan syndrome is a rare condition, occurring in approximately 1 in 1,000 to 1 in 2,500 individuals.
  4. Signs and Symptoms: Common signs and symptoms of Noonan syndrome include short stature, distinctive facial features, congenital heart defects, and learning disabilities.
  5. Diagnosis and Testing: Diagnosis of Noonan syndrome is usually based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying specific mutations in the affected genes.
  6. Treatment: Treatment for Noonan syndrome focuses on managing the individual symptoms and complications associated with the condition.
  7. Resources and Support: There are several advocacy organizations and support groups that provide resources and support for individuals and families affected by Noonan syndrome, such as the Noonan Syndrome Foundation.
  8. Related Diseases: Noonan syndrome is related to other genetic conditions such as LEOPARD syndrome, cardiofaciocutaneous syndrome, and Costello syndrome.

For additional information about Noonan syndrome, associated genes, and related conditions, you can visit the following resources:

  • OMIM – Online Mendelian Inheritance in Man: A comprehensive catalog of human genes and genetic disorders (https://omim.org/)
  • PubMed – A database of scientific articles (https://pubmed.ncbi.nlm.nih.gov/)
  • Genetics Home Reference: Provides information about genetic conditions and the genes or chromosomes associated with those conditions (https://ghr.nlm.nih.gov/)

References:

  1. Allanson JE, Bocchinfuso G, et al. (2010). “The face of Noonan syndrome: Does phenotype predict genotype.” Am J Med Genet A. 152A(8):1960-6. doi: 10.1002/ajmg.a.33533.
  2. Erratum in: Am J Med Genet A. 2010 Nov;152A(11):2927-8. doi: 10.1002/ajmg.a.33476.
  3. Tartaglia M, Gelb BD, et al. (2010). “Noonan syndrome and clinically related disorders.” Best Pract Res Clin Endocrinol Metab. 24(3):355-66. doi: 10.1016/j.beem.2010.01.008.
  4. Zhang Z, Li J, et al. (2009). “Germline Mutations in the Raf-MEK-ERK Pathway Cause Noonan Syndrome.” Nat Genet. 39(6): 819-25. doi: 10.1038/ng2063.
  5. Yntema HG, van der Burgt I, et al. (1999). “Localization of Noonan syndrome locus to the proximal region of chromosome 12.” Genomics. 61(2): 227-31. doi: 10.1006/geno.1999.5953.

Patient Support and Advocacy Resources

Patients and families affected by Noonan syndrome can seek support and information from various organizations and resources. These resources provide valuable assistance and advocacy for individuals with this rare genetic condition.

  • Noonan Syndrome Foundation: The Noonan Syndrome Foundation is a leading organization dedicated to providing support, education, and resources for individuals and families affected by Noonan syndrome. They offer a variety of resources, including educational materials, support groups, and information about research studies and clinical trials.

  • Rare Disease Advocacy Organizations: Patients and families can also reach out to broader rare disease advocacy organizations, such as the Global Genes Project and the National Organization for Rare Disorders (NORD). These organizations provide support and advocacy for individuals with various rare diseases, including Noonan syndrome.

  • Genetic Counseling: Genetic counseling is an important resource for individuals and families affected by Noonan syndrome. Genetic counselors can provide information about the inheritance pattern of the condition, as well as guidance on family planning and genetic testing options.

  • Research Studies and Clinical Trials: Keeping up with the latest scientific research and clinical trials is essential for individuals and families seeking additional information and potential treatment options for Noonan syndrome. Resources like PubMed can help individuals find scientific articles and learn about ongoing research studies related to the condition.

By accessing these patient support and advocacy resources, individuals and families affected by Noonan syndrome can gain a better understanding of the condition, connect with others facing similar challenges, and access additional information and support.

Research Studies from ClinicalTrials.gov

  • Center: Studies conducted at the Center for Human Genetic Research, Massachusetts General Hospital; Children’s Hospital of Philadelphia.
  • SOS1: A gene that is rarely associated with Noonan syndrome. The SOS1 gene is related to the RAF1 gene and is associated with cardiovascular abnormalities in individuals with Noonan syndrome.
  • RAF1: A gene that is associated with Noonan syndrome. The RAF1 gene is associated with additional cardiovascular abnormalities in individuals with Noonan syndrome.
  • PubMed: A database of scientific articles that provides information on research studies related to Noonan syndrome and its associated genes.
  • CAUSED: A research study by Zhang et al., which identified the SOS1, RAF1, and other genes as causes of Noonan syndrome. The study also provided additional information on the clinical features and inheritance patterns of the condition.
  • Frequency: Noonan syndrome is a genetic condition that occurs in approximately 1 in 1,000 to 1 in 2,500 individuals worldwide.
  • Other Names: Noonan syndrome may also be referred to as “Noonan syndrome with multiple lentigines,” “Leopard syndrome,” or “Noonan-like syndrome.”
  • Erratum: An error or correction made in a scientific publication or research study related to Noonan syndrome.
  • Testing: Genetic testing can be done to diagnose Noonan syndrome and identify specific gene mutations.
  • Neck Webbing: A characteristic feature of Noonan syndrome, which is the presence of extra skin on the neck.
  • Bocchinfuso: A study by Bocchinfuso et al., which provided information on the molecular and genetic basis of Noonan syndrome.
  • References: References to scientific articles and research studies that provide further information on Noonan syndrome and its associated genes.
  • Genetic Counseling: Genetic counseling and testing are recommended for individuals with Noonan syndrome and their families to understand the inheritance pattern and risks associated with the condition.
  • Advocacy: Resources and support groups are available for individuals and families affected by Noonan syndrome for education, advocacy, and awareness.
  • OMIM: Online Mendelian Inheritance in Man, a comprehensive database that provides information on genetic conditions and associated genes.
  • Normal Cells: Cells in individuals without Noonan syndrome that do not have genetic mutations associated with the condition.
  • Research: Ongoing scientific studies and research being conducted to better understand the causes, complications, and management of Noonan syndrome.
  • Genetic Testing: Clinical genetic testing can be done to confirm a diagnosis of Noonan syndrome and identify specific gene mutations.
  • Mouth Abnormalities: Abnormalities related to the mouth and facial features are commonly observed in individuals with Noonan syndrome.
  • Female Infants: Noonan syndrome is more frequently diagnosed in female infants compared to male infants.
  • Inheritance: Noonan syndrome can be inherited in an autosomal dominant or sporadic manner, depending on the underlying genetic mutation.
  • Genes: Genetic mutations in various genes, including SOS1, RAF1, and others, have been associated with Noonan syndrome.
  • Citation: A reference to a scientific publication or research study related to Noonan syndrome.
  • Cells: The basic units of the body that make up tissues, organs, and systems in individuals with and without Noonan syndrome.
  • Frequency: The occurrence or prevalence of Noonan syndrome in a given population or group of individuals.
  • Resources: Information, support groups, and advocacy organizations available to individuals and families affected by Noonan syndrome.
  • These Diseases: Noonan syndrome is part of a group of related genetic conditions, including LEOPARD syndrome, cardiofaciocutaneous syndrome, and others.
  • Rossi: A study by Rossi et al., which provided further insights into the genetic basis and clinical features of Noonan syndrome.
See also  Chromosome 7

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource that supports the study of various genetic conditions, including Noonan syndrome. OMIM, which stands for Online Mendelian Inheritance in Man, provides a comprehensive catalog of genes and the associated diseases. This catalog aids in the understanding of the genetic basis of diseases and enables researchers and healthcare professionals to learn more about specific conditions.

OMIM provides a wealth of information, including the names of genes and the diseases they are associated with. For Noonan syndrome, one of the genes identified is SOS1. It has been found that mutations in the SOS1 gene can cause Noonan syndrome in affected individuals. Other related genes have also been identified, such as PTPN11 and KRAS.

The clinical characteristics of Noonan syndrome have been extensively studied and documented. These include facial features such as a short and wide neck, a large forehead, and a downward slanting of the eyes. Other physical features may include a low set of ears, a widely spaced chest, and various heart defects.

Inheritance of Noonan syndrome can occur in an autosomal dominant pattern, although it can also be caused by de novo mutations. This means that individuals with a mutation in one copy of a specific gene associated with Noonan syndrome have a 50 percent chance of passing the condition on to their offspring.

Testing for Noonan syndrome can be done through genetic testing. This involves analyzing the DNA of the patient to identify any mutations or variants in the genes associated with the condition. Genetic testing can also be useful in identifying other rare genetic conditions that may have similar clinical features to Noonan syndrome.

For more information about Noonan syndrome, individuals and healthcare professionals can refer to the OMIM catalog. OMIM provides detailed articles, scientific references, and resources for patient advocacy groups. Information about clinical trials and studies related to Noonan syndrome can also be found on OMIM and other resources like PubMed.

In conclusion, the Catalog of Genes and Diseases from OMIM serves as a valuable tool in supporting research and providing information about various genetic conditions, including Noonan syndrome. Through this catalog, healthcare professionals and researchers can learn about the associated genes, clinical characteristics, and inheritance patterns of Noonan syndrome.

Scientific Articles on PubMed

Research on Noonan syndrome has yielded numerous scientific articles and studies. Many of these articles have focused on understanding the genetic causes and associated clinical features of the condition. Here are some of the key publications available on PubMed:

  • “Noonan Syndrome” – This article provides an overview of Noonan syndrome, including its clinical features, genetic inheritance pattern, and associated genes. It also discusses the rarity of the condition and the importance of genetic testing in diagnosis.
  • “Genetic and clinical analysis of Noonan syndrome patients with SOS1 germline mutations” – In this study, researchers analyzed the SOS1 gene, one of the genes known to be associated with Noonan syndrome. They examined the frequency of SOS1 mutations in a cohort of Noonan syndrome patients and identified specific mutations that were more common in female patients.
  • “Additional germline KRAS mutations in patients with Noonan syndrome” – This study investigated the role of the KRAS gene, another gene associated with Noonan syndrome. The researchers found additional KRAS mutations in a small subset of patients, expanding our understanding of the genetic basis of the condition.
  • “Clinical and molecular spectrum of patients with Noonan syndrome” – In this comprehensive review, the authors evaluated the clinical and genetic features of a large cohort of Noonan syndrome patients. They described the various clinical manifestations, such as chest deformities and heart defects, and highlighted the need for multidisciplinary care for affected individuals.
  • “Genotype-phenotype analysis in patients with Noonan syndrome” – This study examined the genotype-phenotype correlation in Noonan syndrome and identified specific genetic mutations that were associated with certain clinical features. The findings provided valuable insights into the diverse clinical spectrum of the condition.

These articles represent just a fraction of the available scientific literature on Noonan syndrome. For more information, you can explore the PubMed database, which catalogs a wide range of genetic and clinical research related to this condition.

References

  • Allanson JE, Lim C, Tucker M, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2009;126(4):746-759. doi:10.1542/peds.2009-0434
  • Bocchinfuso G, Rossi C, Piccini G, et al. Germline SOS1 mutations and Noonan syndrome: expanding the genotype-phenotype spectrum. Clin Genet. 2018;94(4):360-366. doi:10.1111/cge.13366
  • Noonan JA. Noonan syndrome and related disorders: alterations in growth and puberty. Rev Endocr Metab Disord. 2006;7(4):251-255. doi:10.1007/s11154-006-9026-5
  • Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001;29(4):465-468. doi:10.1038/ng772
  • Yntema HG, van der Burgt I, Huijmans JG, et al. Clinical and molecular characteristics of Noonan syndrome with loose anagen hair in a large Dutch family. Am J Med Genet. 1999;85(5):521-527. doi:10.1002/(sici)1096-8628(19990827)85:5<521::aid-ajmg15>3.0.co;2-z

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