Joubert syndrome is a rare genetic condition characterized by a range of symptoms and associated with abnormalities in the structure and function of the brain, particularly the cerebellar vermis. The condition is named after Marie Joubert and P. J. Arthur Joubert, who first described it in 1969. It has also been referred to as “cerebello-oculo-renal syndrome” due to the involvement of the cerebellum, eyes, and kidneys.

Clinical features of Joubert syndrome can vary widely from person to person. Some of the most common symptoms include developmental delay, abnormal eye movements, low muscle tone, breathing abnormalities, and kidney problems. The syndrome is often associated with other conditions, such as eye and liver diseases, and may have different genetic causes.

Genetic testing and research have identified several genes that are associated with Joubert syndrome, including NPHP1, AHI1, and CEP290. These genes play important roles in the development and signaling of cilia, which are hair-like structures on the surface of cells that are involved in cell movement and signaling. Mutations in these genes can disrupt cilia function and lead to the symptoms associated with Joubert syndrome.

Due to the broad range of symptoms and genetic causes, diagnosis of Joubert syndrome can be challenging. However, advances in genetic testing and research have improved diagnostic accuracy and provided more information about the condition. There are also resources and support available for patients and families affected by Joubert syndrome, including clinical trials, advocacy groups, and patient support organizations.

References:

– OMIM entry on Joubert syndrome

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

– Pubmed articles on Joubert syndrome

– ClinicalTrials.gov searches for Joubert syndrome and related conditions

– The Jackson Laboratory Joubert Syndrome Information Page

– Genetics Home Reference Joubert Syndrome Information

Frequency

The frequency of Joubert syndrome is difficult to determine accurately due to the rarity of the condition and the variability of its symptoms. However, studies and resources suggest that Joubert syndrome occurs in approximately 1 in 80,000 to 1 in 100,000 live births.

Joubert syndrome was first described in 1969 by Marie Joubert and her colleagues, hence the name. Since then, additional cases have been reported worldwide. The syndrome has been documented in males and females of various ethnic backgrounds.

Genetic testing can help confirm a diagnosis of Joubert syndrome by identifying mutations or changes in genes known to be associated with the condition. These genes are involved in the structure and function of a cellular organelle called the primary cilium, which plays a role in cell signaling.

There are at least 35 genes currently known to be associated with Joubert syndrome. Mutations in each of these genes can cause the syndrome, although not all mutations have been identified.

Other related diseases, such as nephronophthisis and X-linked recessive diseases, may have overlapping symptoms with Joubert syndrome. Genetic testing can help differentiate between these conditions.

While Joubert syndrome is considered a rare condition, it is important for patients and their families to seek support and information. Scientific articles, clinical trials, and advocacy organizations can provide more resources and information about the syndrome and its associated conditions.

Causes

Most cases of Joubert syndrome are caused by mutations in genes involved in the development and function of cilia, which are tiny, hair-like structures that protrude from cells and have important signaling functions. These genes have been cataloged and can be referred to for more information with the OMIM numbers: 213300, 608091, 608629, 609583, 611560, 612291, 612292, 612340. Research studies have identified more than 35 genes associated with Joubert syndrome.

The inheritance pattern of Joubert syndrome can vary. Some cases are inherited in an autosomal recessive manner, meaning that two copies of the mutated gene are necessary to develop the condition. Other cases are inherited in an X-linked manner, which primarily affects males.

The exact function of these genes and how their mutations lead to the symptoms of Joubert syndrome is still being studied. However, it is believed that the problems with cilia function in Joubert syndrome disrupt the communication within the brain and between the brain and other organs, resulting in the characteristic symptoms of the condition.

In addition to the cilia-related genes, other rare genetic diseases such as Meckel syndrome, nephronophthisis, Bardet-Biedl syndrome, and Senior-Loken syndrome can present with overlapping symptoms with Joubert syndrome.

While each case of Joubert syndrome is unique, research studies and clinical trials are being conducted to better understand the genetic causes and underlying mechanisms of the condition. This research is crucial for developing targeted treatments and interventions.

For more information about Joubert syndrome and its genetic causes, the following resources may be helpful:

• The Joubert Syndrome & Related Disorders Foundation (JSRDF): https://www.jsrdf.org/
• The Center for Human Genetics & Genomics at NYU Langone Health: https://med.nyu.edu/center-human-genetics-genomics/
• The Online Mendelian Inheritance in Man (OMIM) database: https://www.omim.org/
• PubMed, a database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/
• ClinicalTrials.gov, a registry of clinical trials: https://www.clinicaltrials.gov/

Learn more about the genes associated with Joubert syndrome

Joubert syndrome is a rare genetic disorder characterized by a broad range of symptoms, most commonly affecting the structure and function of the cerebellum. Genetic testing can help identify the genes associated with this condition in patients.

There are several genes that have been identified as being associated with Joubert syndrome. These genes include:

• JBTS1
• JBTS2
• JBTS3
• JBTS4
• JBTS5

Each of these genes plays a role in the development and function of the brain, particularly in the formation and maintenance of the cerebellum. Mutations in these genes can lead to the symptoms and clinical presentation of Joubert syndrome.

One of the genes associated with Joubert syndrome, known as NPHP1, is also associated with a kidney disease called nephronophthisis. This highlights the broad range of conditions that can be caused by mutations in these genes. Inheritance patterns for Joubert syndrome vary, however, they can be autosomal recessive, autosomal dominant, or X-linked.

Genetic testing can determine the presence of mutations in these genes. The frequency of these mutations in the population is low, but testing for Joubert syndrome can be valuable for affected individuals and their families. Additional resources and information on genetic testing for Joubert syndrome can be found on websites such as OMIM (Online Mendelian Inheritance in Man), ClinicalTrials.gov, and catalog of genes associated with diseases.

Research on the genes associated with Joubert syndrome is ongoing, with scientists working to better understand the causes and mechanisms of this condition. Many scientific articles and publications can be found on PubMed, providing detailed information on the latest research and findings.

Patient advocacy groups and support centers for Joubert syndrome provide additional information and support for individuals and families affected by this condition. They can offer resources, references, and connections to other patients and families going through similar experiences.

In conclusion, learning more about the genes associated with Joubert syndrome is crucial for understanding the causes, inheritance patterns, and clinical presentation of this rare genetic disorder. Genetic testing and research on these genes play a significant role in advancing our knowledge and improving the diagnosis and management of Joubert syndrome.

Inheritance

Joubert syndrome is a genetic disorder with a rare inheritance pattern. It is usually inherited in an autosomal recessive manner, which means that an affected individual inherits two copies of the defective gene, one from each parent.

More than 35 genes have been associated with Joubert syndrome, and the frequency of each gene’s involvement varies. The most commonly affected genes are those involved in cilia structure and function, as well as genes associated with other related diseases such as nephronophthisis and Meckel syndrome. These genes play a role in cell signaling and are important for the development and function of various organs, including the brain, kidneys, and liver.

Testing for Joubert syndrome can be done at specialized genetic testing centers, using a variety of techniques such as whole exome sequencing or targeted gene panel testing. These tests help identify the specific genetic mutations responsible for the condition, providing valuable information for clinical research and patient advocacy.

Each individual with Joubert syndrome may present with a broad range of symptoms, and the severity of the condition can vary greatly. Additional testing, such as kidney function assessment or brain imaging, may be necessary to better understand the specific manifestations and effects of the syndrome on an affected individual.

References to scientific articles and resources about Joubert syndrome can be found in databases like PubMed, OMIM, and the Joubert Syndrome Foundation’s support and advocacy websites. Various clinical trials for Joubert syndrome are also registered on ClinicalTrials.gov, providing additional information on ongoing research and potential treatment options.

Overall, the inheritance of Joubert syndrome is complex, involving a range of genes and genetic mutations. Further research and understanding of the underlying causes of the syndrome are essential for developing effective treatments and support for affected individuals and their families.

Other Names for This Condition

Joubert syndrome is also known by the following names:

• Breathing-related kidney disease
• Molar tooth midline syndrome
• Cerebelloparenchymal disorder IV
• Joubert-Boltshauser syndrome
• JSRD
• Verheij syndrome

These names are different names for the same condition. They may refer to the center or structure of the brain that is usually affected by Joubert syndrome. The symptoms, condition, and frequency of the affected genes are also described by these names.

For more information about Joubert syndrome, you can visit the Joubert Syndrome Foundation’s website or the Joubert Syndrome and Related Disorders Foundation’s patient catalog. You can also search for more information on clinicaltrialsgov, which provides information about ongoing clinical research studies.

Testing for Joubert syndrome can be done through genetic testing or other clinical tests. These tests can help determine the function of the genes associated with Joubert syndrome and the range of genes that can cause the condition. However, this testing is not always necessary for a diagnosis, as the symptoms and clinical presentation of Joubert syndrome can be enough to make a diagnosis.

There are other diseases, such as nephronophthisis and related ciliopathies, that share overlapping features with Joubert syndrome. Scientific studies and articles often reference Joubert syndrome in relation to these diseases. These references can provide additional information about the causes, symptoms, and inheritance of Joubert syndrome.

Support and advocacy organizations, such as the Joubert Syndrome Foundation and Joubert Syndrome and Related Disorders Foundation, can provide broad resources and information for individuals and families affected by Joubert syndrome. These organizations can offer support, education, and access to research and clinical resources.

Additional Information Resources

If you would like to learn more about Joubert syndrome and related diseases, the following resources may be helpful:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the genetic causes and inheritance patterns of Joubert syndrome and other related disorders. Visit their website at https://www.omim.org/.
• ClinicalTrials.gov: This database allows you to search for ongoing clinical studies and trials related to Joubert syndrome. You may find information about current research and potential treatment options. Access their website at https://clinicaltrials.gov/.
• PubMed: PubMed is a valuable resource for accessing scientific articles and research studies related to Joubert syndrome. You can search for papers on specific topics or browse through relevant publications. Explore their website at https://pubmed.ncbi.nlm.nih.gov/.
• Joubert Syndrome Foundation: This advocacy organization provides support and resources for individuals and families affected by Joubert syndrome. They offer information about the condition, community forums, and events to connect with others. Learn more at their website https://joubertsyndrome.org/.

It is important to note that Joubert syndrome is associated with a broad range of symptoms and can be caused by mutations in various genes. Genetic testing and clinical evaluation are necessary for an accurate diagnosis. Since Joubert syndrome is a rare condition, it is advisable to consult with a specialized medical center or a geneticist to learn more about testing and available treatment options.

Genetic Testing Information

The genetic testing for Joubert syndrome is performed to identify the specific genes involved in the condition. This information can provide valuable insights into the underlying genetic causes and help in understanding the disease better.

There are multiple genes associated with Joubert syndrome and related disorders, such as nephronophthisis. The frequency and range of genes involved can vary for each affected individual. Some genes are more commonly associated with Joubert syndrome, while others are rare.

Patient genetic testing can be done through various methods, including direct sequencing, targeted mutation analysis, and genotyping arrays. These tests can help identify mutations or variations in the genes known to be associated with Joubert syndrome.

OMIM, PubMed, and other genetic databases provide comprehensive information on the specific genes and their associated diseases. ClinicalTrials.gov is another resource that can provide information on ongoing clinical trials related to Joubert syndrome and associated conditions.

Genetic testing results can help in determining the inheritance pattern for Joubert syndrome. It is known that the condition can have autosomal recessive, autosomal dominant, or X-linked inheritance patterns. Some cases may also be sporadic, meaning there is no family history of the condition.

It is important to note that not all individuals with Joubert syndrome will have mutations in the known genes associated with the condition. Genetic research is continuously evolving, and new genes and variations are regularly discovered. Therefore, genetic testing results may not always provide a definitive diagnosis.

In addition to genetic testing, clinical evaluations and assessments are crucial in diagnosing Joubert syndrome. These evaluations may include neurological examinations, brain imaging studies (such as magnetic resonance imaging), and testing for associated symptoms and complications.

Genetic counseling is also recommended for individuals and families affected by Joubert syndrome. Genetic counselors can provide information on the inheritance pattern, recurrence risks, and available resources for support and advocacy.

Overall, genetic testing can provide valuable information about the genes and mutations associated with Joubert syndrome. However, it is important to consider the broad range of genes involved, the complexity of genetic causes, and the limitations of current scientific knowledge in interpreting the testing results.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information about Joubert syndrome. Joubert syndrome is a rare genetic disorder that affects the development of the brain structure known as the cerebellar vermis. This syndrome is characterized by a wide range of symptoms, such as intellectual disability, breathing abnormalities, eye movement abnormalities, and kidney problems.

Joubert syndrome can be caused by mutations in several different genes, including genes associated with ciliopathies, such as TMEM67, AHI1, and CEP290. In some cases, the syndrome may be inherited in an autosomal recessive manner, while in other cases it may be inherited in an X-linked manner.

Additional genes associated with Joubert syndrome include NPHP1 and ARL13B, which are also associated with nephronophthisis, a kidney disease. These genes play a role in the structure and function of cilia, which are hair-like structures on the surface of cells that are involved in cell signaling and are important for the development and function of many organs in the body.

It is estimated that Joubert syndrome affects about 1 in every 80,000-100,000 newborns. However, the frequency may be higher in certain populations or geographical regions.

Those affected by Joubert syndrome may have a wide range of symptoms and severity. Some individuals may have mild intellectual disability and minimal physical abnormalities, while others may have more severe intellectual disability and significant physical and health problems.

For those interested in learning more about Joubert syndrome, there are a variety of resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic factors and inheritance patterns of Joubert syndrome. PubMed and other scientific articles can provide more information about the clinical features, causes, and associated conditions of the syndrome.

Support and advocacy groups, such as the Joubert Syndrome and Related Disorders Foundation, can provide additional information and support for families affected by this condition. Clinical trials and genetic testing may also be available for those interested in participating in research studies or obtaining a diagnosis. In addition, the Genetic Testing Registry (GTR) provides information about genetic tests for Joubert syndrome and other related conditions.

For more information about Joubert syndrome, please visit the Genetic and Rare Diseases Information Center.

Patient Support and Advocacy Resources

Patients and families affected by Joubert syndrome can find support and advocacy resources to help them navigate their journey with this rare condition. These resources provide valuable information, connect patients with others facing similar challenges, and offer support during the diagnostic and treatment process.

• Joubert Syndrome Foundation – The Joubert Syndrome Foundation is dedicated to raising awareness and advocating for individuals affected by Joubert syndrome and related disorders. Their website offers information about the syndrome, research updates, support groups, and resources for families.
• Genetic and Rare Diseases Information Center (GARD) – GARD provides comprehensive information about rare diseases, including Joubert syndrome. Their website features information about symptoms, causes, inheritance, diagnosis, and treatment options for Joubert syndrome. They also offer a toll-free helpline to answer questions and provide support.
• PubMed – PubMed is a database of scientific articles and research studies. Searching for “Joubert syndrome” on PubMed can provide additional information about the condition, its causes, symptoms, and treatment options. It is a valuable resource for patients, families, and healthcare professionals seeking the latest scientific knowledge.
• OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information about the genes associated with Joubert syndrome, their functions, and the inheritance patterns. OMIM can be a helpful resource for patients and families looking to learn more about the genetic causes of Joubert syndrome.
• ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical trials studying various medical conditions, including Joubert syndrome. Patients and families can search for ongoing or upcoming clinical trials related to Joubert syndrome to learn about potential research and treatment opportunities.

These resources offer a broad range of support and information for patients and families affected by Joubert syndrome. Patients can connect with others facing similar challenges, access the latest research, and learn more about genetic causes and inheritance patterns. By leveraging these resources, patients can stay informed and empowered throughout their journey with Joubert syndrome.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a comprehensive database that provides information on ongoing clinical trials. In relation to Joubert syndrome, there are several research studies currently being conducted to better understand the symptoms, causes, and genetic factors associated with the condition. These studies aim to provide more information on the broad range of symptoms and genetic variations that contribute to the development of Joubert syndrome.

One study listed on ClinicalTrials.gov focuses on the genetic causes of Joubert syndrome. Researchers are exploring the frequency and inheritance patterns of different genes implicated in Joubert syndrome. By studying the genetic makeup of affected individuals and their families, researchers hope to identify specific genes and mutations that contribute to the development of the condition. This information can then be used to develop better diagnostic and testing methods for Joubert syndrome.

Another study aims to investigate the kidney problems associated with Joubert syndrome, particularly the rare condition known as nephronophthisis. By studying the structure and function of the nephron, the basic structural and functional unit of the kidney, researchers hope to gain a better understanding of how kidney problems develop in individuals with Joubert syndrome. This information could potentially lead to improved treatments for kidney-related issues in Joubert syndrome patients.

In addition to these specific research studies, ClinicalTrials.gov also provides a wealth of resources and information for patients and healthcare professionals to learn more about Joubert syndrome. The database includes references to scientific articles, clinical trials, and genetic testing resources. By accessing these resources, individuals can stay up-to-date on the latest developments in Joubert syndrome research and advocacy efforts.

Overall, the research studies listed on ClinicalTrials.gov offer valuable insights into the genetic causes, symptoms, and associated conditions of Joubert syndrome. They provide crucial information for healthcare providers and scientists working to improve diagnosis and treatment options for individuals affected by this rare condition.

Catalog of Genes and Diseases from OMIM

The Joubert syndrome is a rare genetic condition that primarily affects males, although it can also be present in females. It is characterized by a range of clinical symptoms, including neurological impairments and malformations of the brainstem and cerebellum. The syndrome derives its name from Marie Joubert, the French neurologist who first described it in the medical literature.

Research on Joubert syndrome has identified several genes that are associated with the condition. These genes are responsible for the broad range of symptoms observed in affected individuals. Most cases of Joubert syndrome are caused by mutations in one of these genes, inherited in an autosomal recessive manner. However, a small percentage of cases may have X-linked inheritance or other genetic causes.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic disorders and associated genes. It provides valuable information about the clinical features, inheritance patterns, and molecular basis of various diseases, including Joubert syndrome. The catalog can be accessed online and offers a wealth of resources for further research.

The Joubert syndrome entry in OMIM contains a summary of the condition, as well as links to relevant articles, scientific resources, and advocacy organizations. It also provides a list of genes associated with the syndrome, along with information about their function and the symptoms they cause when mutated.

One of the most common genes associated with Joubert syndrome is NPHP1, which is also associated with another rare kidney disorder called nephronophthisis. Other genes that have been implicated in the syndrome include AHI1, TMEM67, and CEP290. These genes are involved in various cellular processes, including cilia formation, centrosome function, and cell signaling.

Testing for Joubert syndrome typically involves genetic testing to identify mutations in the associated genes. This information can help confirm a diagnosis and provide important information for patient management and counseling. Genetic testing can be done through specialized laboratories or genetic testing centers.

OMIM provides detailed information about the frequency of Joubert syndrome and the associated genes. It also includes references to relevant scientific studies and articles for further reading. Additional resources, such as clinicaltrialsgov, can provide information about ongoing clinical trials and research studies related to Joubert syndrome.

In conclusion, OMIM offers a comprehensive catalog of genes and diseases, including Joubert syndrome. It provides valuable information about the clinical features, genetic causes, and testing options for this rare condition. By utilizing the resources available on OMIM, healthcare professionals, researchers, and affected individuals can learn more about Joubert syndrome and work towards better understanding and management of the condition.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to Joubert syndrome. The following is a list of articles that provide more information about this condition:

• Advocacy and Support – There are several advocacy groups that provide support and resources for individuals and families affected by Joubert syndrome. Some of these organizations include the Joubert Syndrome Foundation and Joubert Syndrome & Related Disorders Foundation.
• Research Articles – Numerous research articles have been published on various aspects of Joubert syndrome. These articles cover topics such as the genetics, clinical symptoms, and underlying causes of the condition. Some articles may also explore potential treatments and therapies.
• Genes and Inheritance – Joubert syndrome is a rare genetic disorder that is often caused by mutations in specific genes. Mutations in genes such as AHI1, TMEM216, and CEP290, among others, have been associated with Joubert syndrome. Inheritance of the condition can be autosomal recessive, autosomal dominant, or X-linked.
• Clinical Trials – Various clinical trials are conducted to investigate potential treatments and therapies for Joubert syndrome. These trials may involve testing new medications, therapies, or interventions to improve the symptoms and quality of life for individuals with this condition. Information about ongoing clinical trials can be found on websites such as clinicaltrials.gov.
• Nephronophthisis – Joubert syndrome is often associated with nephronophthisis, a kidney disease that affects the structure and function of the kidneys. Nephronophthisis can lead to kidney failure and may require dialysis or a kidney transplant for treatment.
• OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes associated with Joubert syndrome and the clinical features of the condition.

In conclusion, Joubert syndrome is a rare genetic disorder that affects the structure and function of the brain. It is often associated with a range of symptoms and problems, including developmental delays, breathing difficulties, and kidney disease. Scientific articles on PubMed provide valuable information and support for individuals and families affected by this condition. They also contribute to ongoing research efforts aimed at better understanding and treating Joubert syndrome.

References

1. Badano, J. L., Mitsuma, N., Beales, P. L., & Katsanis, N. (2006). The ciliopathies: an emerging class of human genetic disorders. Annual review of genomics and human genetics, 7, 125-148.

2. Joubert Syndrome Foundation and Related Disorders. (n.d.). About Joubert Syndrome. Retrieved from https://www.jsrdf.org/about-joubert-syndrome/

3. Parisi, M. A. (2009). Clinical and molecular features of Joubert syndrome and related disorders. American journal of medical genetics. Part C, Seminars in medical genetics, 151C(4), 326-340.

4. Poretti, A., Biancheri, R., & Boltshauser, E. (2013). Joubert syndrome and related disorders. Handbook of clinical neurology, 113, 1871-1883.

5. Valente, E. M., Brancati, F., Silhavy, J. L., & Castori, M. (2014). Genetics and molecular pathogenesis of Joubert syndrome and related disorders. In Seminars in fetal & neonatal medicine (Vol. 19, No. 6, pp. 393-399). WB Saunders.