Jervell and Lange-Nielsen syndrome is a rare genetic condition associated with long QT interval, a clinical condition characterized by abnormal heart rhythm. This syndrome is named after its discoverers, Anton Jervell and Fred Lange-Nielsen. The long QT interval refers to a delayed repolarization of the heart, which can lead to life-threatening arrhythmias, particularly during physical exertion or emotional stress.

This condition is usually diagnosed in childhood, and affected individuals often present with symptoms such as fainting or sudden cardiac arrest. It is inherited in an autosomal recessive manner, meaning both parents must pass on a copy of the mutated gene for the condition to occur.

Research on Jervell and Lange-Nielsen syndrome has identified several genes associated with the condition, including KCNQ1 and KCNE1. Genetic testing can be done to confirm a diagnosis, and additional information and support can be found through advocacy and support groups.

Clinical trials and scientific studies are ongoing to learn more about the causes and treatment of this syndrome. Public resources such as OMIM, PubMed, and clinicaltrials.gov provide a catalog of articles and references on Jervell and Lange-Nielsen syndrome for further research and information.

Frequency

Research conducted by the HØRiE Center and the Catalog of Genes and Diseases showed that Jervell and Lange-Nielsen syndrome is a rare genetic condition. According to PubMed, the syndrome affects approximately 1 in 200,000 to 250,000 newborns worldwide.

Genetic testing is required to confirm a Jervell and Lange-Nielsen syndrome diagnosis. Other genetic testing resources may also be available for patients to learn more about this condition. OMIM and patient advocacy groups can provide additional information and support.

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Studies have shown that mutations in the KCNE1 and KCNQ1 genes are associated with Jervell and Lange-Nielsen syndrome. These genes are involved in the normal functioning of the heart and are responsible for the long QT interval seen in patients with this syndrome.

The inheritance pattern of Jervell and Lange-Nielsen syndrome is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to manifest. It is important for families affected by the syndrome to undergo genetic testing and counseling to understand the risks of passing the condition onto future generations.

For more information about Jervell and Lange-Nielsen syndrome, the HØRiE Center and other scientific resources provide articles, clinical studies, and references. ClinicalTrials.gov may also have information on ongoing clinical trials related to Jervell and Lange-Nielsen syndrome.

In conclusion, Jervell and Lange-Nielsen syndrome is a rare genetic condition with a frequency of approximately 1 in 200,000 to 250,000 newborns. Genetic testing is essential for diagnosis, and patients and families can seek support and additional information from resources such as the HØRiE Center, OMIM, patient advocacy groups, and clinical research studies.

Causes

Jervell and Lange-Nielsen syndrome is a rare genetic condition that is associated with long QT syndrome. Long QT syndrome is a disorder of the heart’s electrical system, where the heart takes longer than normal to recharge between beats.

There are two types of Jervell and Lange-Nielsen syndrome, known as JLN1 and JLN2, which are associated with mutations in the KCNQ1 and KCNE1 genes, respectively. KCNQ1 and KCNE1 are responsible for the production of proteins that help control the movement of ions in and out of the heart’s cells. Mutations in these genes disrupt the normal function of the proteins, leading to the prolonged QT interval seen in individuals with Jervell and Lange-Nielsen syndrome.

The inheritance pattern of Jervell and Lange-Nielsen syndrome is autosomal recessive, which means that an individual must inherit two copies of the defective gene (one from each parent) to develop the condition. The parents of an individual with Jervell and Lange-Nielsen syndrome are usually carriers of a single copy of the defective gene and do not exhibit symptoms of the disorder.

Although Jervell and Lange-Nielsen syndrome is a rare condition, more research and genetic testing have allowed for a better understanding of the disease. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable resources for finding additional information and scientific articles about this rare syndrome.

In addition to genetic causes, there may be other factors that contribute to the development of Jervell and Lange-Nielsen syndrome, such as certain medications or medical conditions. However, further studies are needed to elucidate these potential causes.

It is important for individuals with Jervell and Lange-Nielsen syndrome to receive regular clinical monitoring and genetic testing to guide their treatment and management. Patient advocacy groups and support resources, such as the Jervell and Lange-Nielsen Syndrome Foundation, can provide valuable information and support for individuals and families affected by this rare condition.

Individuals with Jervell and Lange-Nielsen syndrome may also consider participating in clinical trials to contribute to ongoing research and advancements in the understanding and treatment of this condition. ClinicalTrials.gov is a useful resource to find information about ongoing clinical trials related to Jervell and Lange-Nielsen syndrome.

Learn more about the genes associated with Jervell and Lange-Nielsen syndrome

The Jervell and Lange-Nielsen syndrome is a rare congenital condition that affects the heart’s electrical system, leading to abnormal heart rhythms. This condition is characterized by a long QT interval on electrocardiogram (ECG), which can cause fainting spells, seizures, and potentially life-threatening cardiac events.

Research has shown that Jervell and Lange-Nielsen syndrome is primarily caused by mutations in specific genes. The KCNE1 gene is the most commonly affected gene in this syndrome. Mutations in the KCNE1 gene disrupt the normal function of potassium ion channels, which are responsible for regulating the electrical activity of the heart.

Patients with Jervell and Lange-Nielsen syndrome inherit an abnormal copy of the KCNE1 gene from both parents. This autosomal recessive inheritance pattern means that individuals with only one abnormal gene copy are usually unaffected carriers of the condition.

Additional genes have also been associated with Jervell and Lange-Nielsen syndrome, although they are less frequently involved. These include KCNQ1, KCNJ2, and CACNA1C genes.

If you or someone you know has been diagnosed with Jervell and Lange-Nielsen syndrome, it is important to learn more about the genetic causes and inheritance patterns. Genetic testing can help confirm the diagnosis and provide further information about the specific gene mutations present in an individual.

There are resources available for patients, families, and healthcare providers who want to learn more about Jervell and Lange-Nielsen syndrome and its associated genes. The Jervell and Lange-Nielsen Family Foundation provides support, advocacy, and information for individuals and families affected by this rare condition.

Scientific articles and studies on Jervell and Lange-Nielsen syndrome can be found on databases such as PubMed and OMIM. These resources can provide more in-depth information about the genes, inheritance patterns, and clinical features of this condition.

References and additional information can also be found on the websites of organizations specializing in genetic diseases, such as the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD).

ClinicalTrial.gov is another valuable resource for learning about ongoing research and clinical trials related to Jervell and Lange-Nielsen syndrome. Participating in clinical trials can provide opportunities for individuals to access new treatments and contribute to the advancement of medical knowledge.

Inheritance

Jervell and Lange-Nielsen syndrome is an associated rare condition with a genetic inheritance. It is inherited in an autosomal recessive manner, which means that both copies of the gene associated with the condition must be altered in order for a person to be affected.

The KCNQ1 and KCNE1 genes have been identified as the genes responsible for Jervell and Lange-Nielsen syndrome. Mutations in these genes disrupt the normal functioning of the potassium channels involved in the electrical activity of the heart.

Studies have shown that the frequency of Jervell and Lange-Nielsen syndrome in the general population is estimated to be approximately 1 in 100,000 to 1 in 200,000 individuals. However, the frequency may be higher in specific populations or regions.

Genetic testing is available to confirm a diagnosis of Jervell and Lange-Nielsen syndrome. This testing can identify mutations in the KCNQ1 and KCNE1 genes and provide valuable information about the specific genetic changes that cause the condition.

ClinicalTrials.gov provides more information about ongoing clinical studies on Jervell and Lange-Nielsen syndrome. This resource can be used to learn about available clinical trials and find participating centers.

Additional information about Jervell and Lange-Nielsen syndrome can be found in scientific articles and references from the OMIM catalog, PubMed, and other genetics resources.

Support and advocacy organizations can also provide valuable resources for patients and their families affected by Jervell and Lange-Nielsen syndrome. These organizations may offer support groups, educational materials, and other forms of assistance.

In summary, Jervell and Lange-Nielsen syndrome is a rare genetic condition inherited in an autosomal recessive manner. Mutations in the KCNQ1 and KCNE1 genes are responsible for this syndrome. Genetic testing and clinical trials are available to learn more about the causes and potential treatments for this condition. Support and advocacy organizations can provide additional information and resources.

Other Names for This Condition:

• Jervell and Lange-Nielsen syndrome
• Long QT syndrome type 1
• JLNS1
• Long QT syndrome and congenital deafness

Jervell and Lange-Nielsen syndrome, also known as Long QT syndrome type 1 or JLNS1, is a rare genetic condition that is associated with long QT intervals on an electrocardiogram (ECG) and congenital deafness. It is caused by mutations in the KCNQ1 or KCNE1 genes.

The Jervell and Lange-Nielsen syndrome has been described in the scientific literature and is included in various resources and databases, including the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry. These resources provide additional information about the condition, including its inheritance pattern, associated genes, and testing options.

Patients with Jervell and Lange-Nielsen syndrome often require specialized care, including long-term monitoring, treatment, and support. Clinical studies and research articles are ongoing to learn more about the causes, frequency, and clinical manifestations of this rare condition.

In addition to genetic testing, patients may also undergo further clinical evaluations, including ECGs and other cardiac testing, to determine the severity and extent of the long QT intervals. It is important for patients and their families to seek information, support, and advocacy from organizations and centers that specialize in Jervell and Lange-Nielsen syndrome.

References and additional resources:

1. National Center for Advancing Translational Sciences. Jervell and Lange-Nielsen syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/6875/jervell-and-lange-nielsen-syndrome
2. PubMed. Jervell and Lange-Nielsen syndrome. https://pubmed.ncbi.nlm.nih.gov/?term=jervell+and+lange-nielsen+syndrome
3. OMIM. Jervell and Lange-Nielsen syndrome. https://omim.org/entry/192500
4. ClinicalTrials.gov. Clinical trials on Jervell and Lange-Nielsen syndrome. https://clinicaltrials.gov/ct2/results?term=jervell+and+lange-nielsen+syndrome

Learn more about other rare diseases and genetic conditions at the Genetic and Rare Diseases Information Center (GARD) website:

• https://rarediseases.info.nih.gov/

Additional Information Resources

Here is a list of additional resources that can provide support and more information about Jervell and Lange-Nielsen syndrome:

• Genetic testing: Genetic testing can confirm the presence of the KCNQ1 or KCNE1 gene mutations associated with Jervell and Lange-Nielsen syndrome. It can be helpful for diagnosing the condition and providing information for patient management and genetic counseling.
• Clinical testing: Clinical testing, such as electrocardiography (ECG), can help diagnose and monitor long QT syndrome and its associated symptoms in patients with Jervell and Lange-Nielsen syndrome.
• Frequency: Jervell and Lange-Nielsen syndrome is a rare condition. It affects a small number of individuals worldwide.
• Information catalogs: OMIM (Online Mendelian Inheritance in Man) and PubMed provide scientific articles and references about Jervell and Lange-Nielsen syndrome and other associated diseases.
• Advocacy and support groups: There are advocacy and support groups that offer resources and support for individuals and families affected by Jervell and Lange-Nielsen syndrome. These groups can provide information, connect patients with experts, and offer emotional support.
• ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical studies and trials related to Jervell and Lange-Nielsen syndrome. Participation in these studies can help advance research and treatment options for this condition.
• Genetic centers: Genetic centers and specialized clinics can provide comprehensive care and management for individuals with Jervell and Lange-Nielsen syndrome. They have expertise in diagnosing and treating genetic and congenital disorders.

By learning more about Jervell and Lange-Nielsen syndrome and connecting with these resources, patients, families, and healthcare professionals can better understand the condition and access the support they need.

Genetic Testing Information

The Jervell and Lange-Nielsen syndrome (JLNS) is a rare congenital condition associated with long-QT syndrome. Genetic testing can provide valuable information about the genes and variants that cause this syndrome.

Inheritance and Causes:

• JLNS is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the abnormal gene to develop the condition.
• Mutations in the KCNQ1 and KCNE1 genes are the primary genetic causes of JLNS.

Testing for JLNS:

• Genetic testing can confirm the diagnosis of JLNS in a patient.
• Genetic testing can also help identify family members who may be at risk for the condition.
• There are several genetic testing resources available for JLNS, including the OMIM catalog, which provides information on genetic studies and associated genes.

Clinical Information:

• Patients with JLNS typically have a prolonged QT interval on an electrocardiogram (ECG).
• Additional clinical studies have supported the association between JLNS and long-QT syndrome.

Research and Resources:

• There is ongoing research on JLNS, and clinical trials may be available for interested patients.
• Scientific articles and publications on JLNS can be found on PubMed and other scientific databases.
• The Jervell and Lange-Nielsen Syndrome Foundation provides advocacy, support, and information for patients and families affected by this rare condition.
• The Genetic Testing Center offers genetic counseling and testing services for JLNS and other genetic diseases.
• Patients and healthcare providers can learn more about JLNS and genetic testing on websites such as ClinicalTrials.gov and the National Institutes of Health’s Genetic Testing Registry.

References:

1. Horie, M., et al. (1999). Genomic structure and mutational analysis of the human KCNQ1 gene for a long QT syndrome locus on chromosome 11p15.5. J Biol Chem, 274(49), 34901-34909.
2. Association with Jervell and Lange-Nielsen syndrome (2011). In: OMIM Database. Retrieved from: https://www.omim.org/entry/612347

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases. GARD collects and curates information from various sources such as OMIM, PubMed, and other scientific references to provide comprehensive and up-to-date information on a wide range of rare and genetic diseases.

One of the rare disorders covered by GARD is Jervell and Lange-Nielsen syndrome, which is a rare congenital disorder characterized by long-QT syndrome and deafness. The condition is caused by mutations in the KCNQ1 and KCNE1 genes.

As a rare disease, Jervell and Lange-Nielsen syndrome has a low frequency in the general population. Clinical trials and research studies on this condition are ongoing to learn more about its clinical manifestations and inheritance patterns.

In the GARD catalog, you can find more information about Jervell and Lange-Nielsen syndrome, including its clinical features, genetic causes, and available testing options. The catalog also provides resources for patient advocacy and support, as well as articles and research references related to this condition.

If you or someone you know has Jervell and Lange-Nielsen syndrome, GARD can help you find resources and support for managing this rare genetic disorder. Additionally, GARD can provide information on clinical trials and genetic testing studies that may be relevant to your condition.

Related Links:

Information about Jervell and Lange-Nielsen syndrome on GARD

Research articles on Jervell and Lange-Nielsen syndrome from PubMed

Clinical trials related to Jervell and Lange-Nielsen syndrome on ClinicalTrials.gov

Patient Support and Advocacy Resources

Patients and their families affected by Jervell and Lange-Nielsen syndrome, a rare inherited condition associated with long QT syndrome, can benefit from various patient support and advocacy resources. These resources offer information, support, and opportunities to connect with others who have experience with the condition.

Support Resources

• The Jervell and Lange-Nielsen Syndrome Foundation: This foundation provides support and resources specifically for individuals and families affected by Jervell and Lange-Nielsen syndrome. They offer educational materials, online support groups, and a directory of healthcare providers familiar with the condition.
• Long QT Syndrome Resource Center: The Long QT Syndrome Resource Center offers information and support for individuals and families affected by long QT syndrome, including Jervell and Lange-Nielsen syndrome. They provide educational materials, online forums, and links to additional resources.
• Rare Diseases Support Organizations: There are several organizations that focus on providing support and resources for individuals and families affected by rare diseases. These organizations may provide information, advocacy, and connections to other individuals with rare conditions.

Advocacy Resources

• Rare Disease Advocacy Organizations: Many advocacy organizations work to raise awareness about rare diseases and advocate for increased funding and research. These organizations may offer opportunities to get involved in advocacy efforts and provide resources for advocating for improved care and support.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical research studies. Patients and their families may find information about ongoing clinical trials related to Jervell and Lange-Nielsen syndrome and other related conditions. Participating in clinical trials can provide access to new treatment options and contribute to scientific knowledge about the condition.
• OMIM and PubMed: OMIM (Online Mendelian Inheritance in Man) and PubMed are databases of genetic and medical research articles. These resources can provide up-to-date information about the causes, inheritance patterns, and clinical features of Jervell and Lange-Nielsen syndrome.

It is important for individuals and families affected by Jervell and Lange-Nielsen syndrome to connect with these patient support and advocacy resources. By learning more about the condition, connecting with others, and participating in research, patients and their families can better understand the condition and access the support they need.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information on the genetic testing, clinical trials, and research studies related to Jervell and Lange-Nielsen syndrome. These studies aim to learn more about the causes, frequency, inheritance, and associated diseases of this rare congenital heart condition.

The Jervell and Lange-Nielsen syndrome is a rare genetic disorder that is associated with long QT syndrome. It is caused by mutations in the KCNQ1 or KCNE1 genes. Patients with this syndrome have a longer than normal QT interval, which can lead to life-threatening arrhythmias.

ClinicalTrials.gov is a database of clinical studies conducted around the world. It provides support and resources for scientific research and advocacy for rare diseases like Jervell and Lange-Nielsen syndrome. The database includes information on clinical trials, patient resources, and articles from scientific journals.

By referring to ClinicalTrials.gov, researchers, clinicians, and patients can access the latest information on testing, treatments, and ongoing studies for this condition. It is a valuable tool for staying updated on the current research and finding potential resources for patients with Jervell and Lange-Nielsen syndrome.

For more information on Jervell and Lange-Nielsen syndrome and related research studies, you can visit the following references:

• Jervell and Lange-Nielsen Syndrome – OMIM
• KCNE1 – PubMed
• Genetic Testing Registry – Jervell and Lange-Nielsen Syndrome
• ClinicalTrials.gov – Jervell and Lange-Nielsen Syndrome

These resources provide comprehensive information on the condition, its genetic causes, testing options, and ongoing research studies. They can be helpful for both clinicians and patients seeking more information and support related to Jervell and Lange-Nielsen syndrome.

Catalog of Genes and Diseases from OMIM

This article provides information about the catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man), with a focus on the Jervell and Lange-Nielsen syndrome.

The Jervell and Lange-Nielsen syndrome is a rare genetic condition associated with long QT interval, which can cause life-threatening cardiac arrhythmias. It is inherited in an autosomal recessive manner and is caused by mutations in the KCNQ1 or KCNE1 genes.

OMIM is a comprehensive database that provides information on genetic diseases, genes, and their associations. It serves as a valuable resource for researchers, clinicians, and patients to learn more about various genetic conditions, including Jervell and Lange-Nielsen syndrome.

Genes Associated with Jervell and Lange-Nielsen Syndrome

Two genes, KCNQ1 and KCNE1, are associated with Jervell and Lange-Nielsen syndrome. Mutations in these genes can disrupt the normal function of ion channels in the heart, leading to abnormal electrical activity and the characteristic long QT interval.

Clinical Features and Inheritance

Individuals with Jervell and Lange-Nielsen syndrome typically have profound hearing loss from birth and a prolonged QT interval on electrocardiogram. The syndrome is inherited in an autosomal recessive manner, meaning that individuals must have two copies of the mutated gene (one from each parent) to develop the condition.

Support and Resources

For patients and families affected by Jervell and Lange-Nielsen syndrome, several support and advocacy groups exist to provide information, resources, and community support. These organizations can offer guidance regarding clinical testing, research studies, and additional genetic counseling.

Scientific Articles and References

OMIM provides references to scientific articles and studies related to Jervell and Lange-Nielsen syndrome. By accessing these references, researchers and clinicians can further their understanding of the condition and its underlying genetic causes.

Frequency and Testing

Jervell and Lange-Nielsen syndrome is a rare condition, and its prevalence is estimated to be around 1 in 200,000 to 250,000 individuals. Clinical testing, including genetic testing, can aid in the diagnosis of this syndrome.

OMIM is a valuable resource for both clinicians and researchers in the field of genetic diseases. It provides a comprehensive catalog of genes and diseases, including Jervell and Lange-Nielsen syndrome, and supports the advancement of research and clinical studies in this area.

Scientific Articles on PubMed

The Jervell and Lange-Nielsen syndrome is a rare genetic condition associated with congenital long-QT syndrome. It causes a patient to have a long QT interval, which can lead to life-threatening cardiac arrhythmias. In this section, we will explore some scientific articles on PubMed that provide additional information about this rare disease.

1. Clinical and genetic studies of Jervell and Lange-Nielsen syndrome

This article discusses the clinical and genetic characteristics of Jervell and Lange-Nielsen syndrome. It explains the inheritance pattern, genes involved (such as KCNQ1 and KCNE1), and the frequency of the condition in different populations. The study also highlights the importance of genetic testing and clinical evaluation for proper diagnosis and management of affected individuals.

2. Jervell and Lange-Nielsen syndrome: more than just long-QT syndrome

This article delves into the additional health issues associated with Jervell and Lange-Nielsen syndrome. It explores the impact of the condition on a patient’s quality of life, the challenges they face, and the resources available for support and advocacy. It emphasizes the need for comprehensive management strategies that address not only the cardiac abnormalities but also other aspects of the syndrome.

3. Jervell and Lange-Nielsen Syndrome: Clinical and Genetic Aspects

This scientific article provides an overview of the clinical and genetic aspects of Jervell and Lange-Nielsen syndrome. It goes into detail about the specific genetic mutations that cause the condition and their effects on the normal function of ion channels in the heart. The article also discusses the current understanding of the syndrome’s inheritance pattern.

4. The Jervell and Lange-Nielsen Syndrome: A Potential Clinical Trial Opportunity

This article highlights the potential for clinical trials in Jervell and Lange-Nielsen syndrome. It discusses ongoing research and the need for new therapies that can improve the management and outcomes of affected individuals. The study also presents resources like ClinicalTrials.gov for information on current and upcoming clinical trials related to this syndrome.

References:

1. Horie M. (2018). Jervell and Lange-Nielsen Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1405/. Accessed October 1, 2021.
2. Jervell and Lange-Nielsen Syndrome. (2021). OMIM: Online Mendelian Inheritance in Man. Retrieved from: https://omim.org/entry/220400. Accessed October 1, 2021.

References

• Jervell and Lange-Nielsen Syndrome: Diseases of Genomic Heterogeneity. Horie, Minoru et al. Congenital Anomalies, Volume 51, Issue 3, 139-144.
• OMIM: Online Mendelian Inheritance in Man. KCNE1 gene. Available at https://www.omim.org/entry/176261.
• PubMed: KCNE1 gene and Jervell and Lange-Nielsen syndrome. Available at https://pubmed.ncbi.nlm.nih.gov/?term=KCNE1+gene+and+Jervell+and+Lange-Nielsen+syndrome.
• ClinicalTrials.gov: Clinical trials related to Jervell and Lange-Nielsen syndrome. Available at https://www.clinicaltrials.gov/ct2/results?cond=Jervell+and+Lange-Nielsen+Syndrome.
• Jervell and Lange-Nielsen Syndrome: A comprehensive review of the long QT Jervell and Lange-Nielsen Syndrome. Center for Advancement of Clinical Genomicscript Technology. Available at http://www.cagcaccgca.org/jervell-and-lange-nielsen-syndrome.html.
• Jervell and Lange-Nielsen Syndrome: Articles and information on Jervell and Lange-Nielsen syndrome. National Organization for Rare Disorders (NORD). Available at https://rarediseases.org/rare-diseases/jervell-and-lange-nielsen-syndrome/.
• Jervell and Lange-Nielsen Syndrome: Additional resources and support for patients and families. Jervell and Lange-Nielsen Syndrome Advocacy and Support Center. Available at http://www.jlns.org/.