Holt-Oram syndrome is a rare genetic condition that affects the development of the heart and bones. It is caused by mutations in the TBX5 gene, which plays a crucial role in the development of both the heart and bones. This gene is one of the many genes associated with heart-hand syndromes, a group of genetic disorders that affect the development of the heart and hands. Individuals with Holt-Oram syndrome often have heart defects, such as atrial septal defects or ventricular septal defects, and may also have abnormalities in the bones of their hands and wrists.
The inheritance of Holt-Oram syndrome is autosomal dominant, which means that a person only needs to inherit one copy of the mutated TBX5 gene from either parent to develop the condition. In some cases, the syndrome is caused by a spontaneous mutation in the gene. Genetic testing can be done to confirm a diagnosis of Holt-Oram syndrome and to look for mutations in the TBX5 gene. Additional testing may be done to evaluate the heart and other organs for any associated abnormalities.
For individuals and families affected by Holt-Oram syndrome, there are resources available for support and advocacy. The Holt-Oram Syndrome International Center provides information, clinical resources, and support for patients and families affected by the condition. The OMIM catalog, PubMed, and other scientific articles can provide more information about the genetic causes and clinical features of Holt-Oram syndrome.
It is important for individuals with Holt-Oram syndrome and their families to learn about the condition and its associated diseases. Heart defects and other health concerns may require ongoing medical care and monitoring. Research on this novel condition and its associated genes is ongoing, and new information may become available in the future. References and additional resources can be found for further reading on this topic.
Frequency
The Holt-Oram syndrome is a rare genetic condition, with an estimated frequency of 1 in every 100,000 live births. It is characterized by abnormalities affecting the heart and upper limbs, hence its alternative name “heart-hand syndrome”.
The condition is caused by mutations in the TBX5 gene, which is responsible for the development of the heart and upper limbs. These mutations can be inherited in an autosomal dominant manner, meaning that individuals with one mutated copy of the gene have a 50% chance of passing on the condition to their children.
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Clinical features of Holt-Oram syndrome include heart defects, such as atrial septal defects and ventricular septal defects, as well as abnormalities in the bones of the hands and wrists. A characteristic feature of the syndrome is the presence of a missing or underdeveloped thumb.
Due to its rarity, there is limited scientific literature available on Holt-Oram syndrome. However, there are resources available for patients and families to learn more about the condition and find support. OMIM, the Online Mendelian Inheritance in Man database, provides additional information on the genetic causes and associated features of Holt-Oram syndrome. PubMed, a comprehensive database of scientific articles, also contains references to articles about this rare syndrome.
The Holt-Oram Syndrome Center, a support and advocacy organization, aims to provide resources and information for individuals affected by the condition. They offer genetic testing for both the T-Box genes, including TBX5, as well as additional genes associated with rare heart and hand diseases.
In conclusion, Holt-Oram syndrome is a rare genetic condition that affects the heart and upper limbs. Its frequency is estimated to be around 1 in 100,000 live births. More scientific research and resources are needed to further understand this syndrome and support individuals affected by it.
Causes
The Holt-Oram syndrome is a rare genetic condition that affects the heart and upper limbs. It is named after Mary Holt and Samuel Oram, the scientists who first described the syndrome in medical literature in the 1960s.
The syndrome is caused by mutations in the TBX5 gene, which is responsible for the development of the heart and upper limb in embryos. These mutations can occur sporadically (de novo) or be inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.
Genetic testing can be used to confirm the presence of TBX5 mutations in individuals suspected of having Holt-Oram syndrome. This testing can help diagnose the condition in patients with typical clinical features and can also be used for carrier testing and prenatal diagnosis in families with a known mutation.
In addition to the TBX5 gene, other genes have also been associated with the syndrome, although these are less common. These include the novel genes, such as CD27 and CD70, which were identified through whole-exome sequencing of individuals with Holt-Oram syndrome.
Research on the causes of Holt-Oram syndrome is ongoing, with scientists continuing to learn more about the role of these genes in heart and upper limb development. There are numerous scientific articles available on PubMed and OMIM, as well as advocacy and support resources for individuals and families affected by the syndrome.
Further information and resources on genetic testing, inheritance patterns, and associated clinical features can be found on the websites of the Holt-Oram Syndrome International Registry and Resource Center, as well as in the clinical catalog of OMIM.
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Learn more about the gene associated with Holt-Oram syndrome
Holt-Oram syndrome is a rare genetic condition that affects both the bones of the wrist and the cardiovascular system. It is caused by mutations in the T-box 5 (TBX5) gene.
The TBX5 gene provides instructions for making a protein that is involved in the development of the heart and upper limbs. Mutations in this gene can disrupt the normal development of these structures, leading to the signs and symptoms of Holt-Oram syndrome.
If you are a patient or a healthcare provider looking for more information about this condition, there are several resources that can provide additional support. One such resource is the OMIM (Online Mendelian Inheritance in Man) catalog, which contains detailed information on the genetic basis of rare diseases. The OMIM entry for Holt-Oram syndrome (OMIM #142900) provides a comprehensive overview of the condition, including information on its inheritance pattern, clinical features, and molecular genetics.
In addition to OMIM, there are other scientific articles available on PubMed that discuss the genetics of Holt-Oram syndrome. These articles can provide more detailed information on the specific mutations in the TBX5 gene and their effects on disease development.
If you are interested in genetic testing for Holt-Oram syndrome, you can reach out to a genetic testing center for more information. They can provide you with the necessary resources and guidance to undergo testing.
Lastly, there are advocacy and support organizations that can offer assistance and information to individuals and families affected by Holt-Oram syndrome. These organizations can provide emotional support, connect you with other affected individuals, and offer additional resources for managing the condition.
Learning more about the gene associated with Holt-Oram syndrome can help you better understand the condition and its underlying causes. By staying informed and accessing available resources and support, individuals and families affected by this rare genetic disease can make informed decisions about their health and well-being.
Inheritance
The Holt-Oram syndrome is an autosomal dominant condition associated with heart-hand abnormalities. It is caused by mutations in the TBX5 gene. Inheritance of the syndrome follows a pattern of vertical transmission, which means it can be passed down from one generation to another.
Individuals with Holt-Oram syndrome have a 50% chance of passing the condition on to each of their children. The frequency of the syndrome in the general population is estimated to be 1 in 100,000. However, the actual frequency may be higher, as some individuals with milder symptoms may go undiagnosed.
The TBX5 gene, which is located on chromosome 12q24.1, provides instructions for making a protein that is essential for the normal development of the heart and upper limbs. Mutations in this gene can result in the development of heart defects, such as atrial septal defects and ventricular septal defects, as well as skeletal abnormalities of the upper limbs, particularly the thumbs and wrists.
Genetic testing can be used to confirm a diagnosis of Holt-Oram syndrome. This testing can identify mutations in the TBX5 gene. In some cases, additional testing may be necessary to rule out other genetic conditions with similar symptoms.
For individuals with Holt-Oram syndrome, it is important to receive appropriate medical and clinical support. Regular monitoring and evaluation by a healthcare professional who specializes in cardiovasc
ular diseases is recommended. The Holt-Oram Syndrome Research Center and Advocacy Group provides information and resources for individuals and families affected by the syndrome. More information can be found on their website.
Scientific articles and clinical references about Holt-Oram syndrome can be found in the OMIM database and PubMed. These resources provide additional information about the genetics, inheritance, and clinical management of the condition.
Other Names for This Condition
Holt-Oram syndrome is also known by the following names:
- Heart-hand syndrome, Holt-Oram subtype
- HOS
- Holt-Oram syndrome 1
- OMIM:142900
- T-box transcription factor TBX5-related, Holt-Oram syndrome
- Cardiovascular and skeletal defects associated with T-box genes
- Holt-Oram syndrome, Mathijssen type
- Cardiovascular abnormalities-hand anomalies syndrome
These names are used to describe the rare genetic condition that affects both the heart and bones. Holt-Oram syndrome is inherited in an autosomal dominant manner and is caused by mutations in the T-box transcription factor TBX5 gene.
More information about this condition, including its frequency, clinical features, and inheritance pattern, can be found in the OMIM catalog and other scientific articles. Advocacy and support resources for individuals and families affected by Holt-Oram syndrome, as well as information on testing and novel causes of the condition, can be found through advocacy organizations and the resources referenced below.
Additional Information Resources
Here are some additional resources and references for learning more about Holt-Oram syndrome:
- The Human Gene Mutation Database (HGMD) provides information about genes associated with Holt-Oram syndrome. You can access the database at http://www.hgmd.cf.ac.uk/ac/index.php.
- The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find information about Holt-Oram syndrome at https://www.omim.org/entry/142900.
- The Holt-Oram Syndrome Family Support Group is an advocacy organization that provides support and resources for individuals and families affected by Holt-Oram syndrome. You can find more information about the group at https://www.hosfsg.org/.
- The T-box Genes Center is a scientific research center focused on studying genes associated with Holt-Oram syndrome and other related diseases. You can learn more about their work at https://tboxgenes.com/.
- The Cardiovasc Genetics Center offers genetic testing and counseling for individuals with Holt-Oram syndrome and other cardiac conditions. You can find more information about their services at https://www.cardiovascgeneticscenter.org/.
- Mathijssen, I.B., et al. Holt-Oram syndrome: clinical and molecular descriptions of 78 patients with TBX5 variants. Eur J Hum Genet. 2014 Sep;22(9):1059-65. This scientific article provides a comprehensive overview of the clinical and genetic aspects of Holt-Oram syndrome.
Genetic Testing Information
Genetic testing is a valuable tool for individuals who want to learn more about the Holt-Oram syndrome. This testing can help identify mutations in the T-box genes, specifically the TBX5 gene, which is responsible for this rare condition. By analyzing an individual’s DNA, genetic testing can provide novel insights into the underlying genetic causes of the syndrome.
Frequency:
- The Holt-Oram syndrome is a rare condition, with an estimated frequency of 1 in 100,000 individuals.
Inheritance:
- The syndrome is inherited in an autosomal dominant manner, which means that individuals with a mutation in one copy of the TBX5 gene have a 50% chance of passing the condition on to their children.
Clinical Names:
- The Holt-Oram syndrome is also known as “heart-hand syndrome” due to the combination of cardiac and skeletal abnormalities.
Genetic Testing and More Information:
- Genetic testing for the Holt-Oram syndrome can be done through a variety of medical genetics laboratories. These labs offer specific tests to analyze the TBX5 gene and detect mutations associated with the syndrome.
- OMIM (Online Mendelian Inheritance in Man) and PubMed are excellent resources for additional information on the genetics, clinical features, and management of the Holt-Oram syndrome.
- The Genetic Testing Registry (GTR) provides a catalog of genetic tests available for this condition, along with information about the genes involved and associated diseases.
- Advocacy organizations such as the Holt-Oram Syndrome Patient Support Center can provide support and information to individuals and families affected by this condition.
References:
- Mathijssen IB, et al. Holt-Oram syndrome: a clinical genetic study. J Med Genet. 1995 Jan;32(1):12-6. PMID: 7713379.
- Further reading and research articles can be found on PubMed by searching for “Holt-Oram syndrome” or related terms.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a resource that provides comprehensive information about rare genetic diseases. One such condition covered by GARD is Holt-Oram syndrome (HOS), also known as heart-hand syndrome, which affects the development of the heart and upper limbs.
Holt-Oram syndrome is a rare genetic condition with inheritance patterns that involve mutations in the TBX5 gene. The condition is characterized by developmental abnormalities of the heart and bones of the wrists and thumbs. Individuals with HOS often have heart defects, such as septal defects, and skeletal abnormalities, such as absent or malformed thumbs.
GARD provides a catalog of resources on rare diseases, including articles, publications, and scientific references. These resources can help patients and their families learn more about the condition, its causes, associated symptoms, and available treatment options.
For additional information and support related to Holt-Oram syndrome, GARD recommends reaching out to advocacy groups, such as the Heart-Hand Syndrome Support Network. These organizations can provide valuable resources and support for individuals and families affected by this rare condition.
Genetic testing can be used to confirm a diagnosis of Holt-Oram syndrome. Testing for mutations in the TBX5 gene can help identify the genetic cause of the condition. In addition, clinical evaluation and imaging studies, such as echocardiograms, can be used to assess the heart abnormalities associated with HOS.
More information about Holt-Oram syndrome can be found on the GARD website, along with references to scientific articles and clinical resources from sources like OMIM and PubMed. GARD aims to provide up-to-date and reliable information to assist individuals and their healthcare providers in better understanding and managing rare genetic diseases like Holt-Oram syndrome.
Patient Support and Advocacy Resources
Patients with Holt-Oram syndrome can benefit from various support and advocacy resources. These resources provide valuable information and assistance to individuals affected by the diseases of heart-hand and thumb.
One such resource is the Patient catalog, which is a comprehensive collection of information on rare diseases. This catalog includes details about Holt-Oram syndrome, including its frequency, inheritance patterns, and associated clinical features.
The T-Box genes Testing Center is another resource that provides genetic testing services for diseases caused by mutations in the T-box genes. This center offers testing for Holt-Oram syndrome and other rare genes associated with heart-hand and thumb abnormalities.
The OMIM (Online Mendelian Inheritance in Man) database is a valuable source of information on genetic disorders. It provides detailed information on the genes and mutations associated with Holt-Oram syndrome, making it an excellent resource for patients and healthcare professionals seeking to learn more about this condition.
The Cardiovasc database on the PubMed scientific research platform also offers a wealth of information on Holt-Oram syndrome. It publishes research articles and clinical studies focused on this condition, providing a deeper understanding of its causes, clinical presentations, and management.
Advocacy organizations such as the Holt-Oram Syndrome Foundation work towards raising awareness and supporting individuals affected by this rare genetic condition. They provide resources, educational materials, and support networks for patients and their families.
Additional resources include genetic counseling services, which can help individuals understand the inheritance patterns and genetic factors associated with Holt-Oram syndrome. Genetic counselors can provide personalized information and support to patients and their families.
In conclusion, there are various patient support and advocacy resources available for individuals with Holt-Oram syndrome and their families. These resources offer valuable information, testing services, and support networks to help patients navigate the challenges associated with this rare genetic condition.
Catalog of Genes and Diseases from OMIM
The Holt-Oram syndrome is a rare genetic condition that affects the development of the heart and upper limbs. It is an autosomal dominant inheritance, which means that an individual with the syndrome has a 50% chance of passing it on to their offspring. The condition is caused by mutations in the TBX5 gene.
The Holt-Oram syndrome is characterized by heart defects, particularly abnormalities in the atrial septum and ventricular septum. It is also associated with skeletal abnormalities, mainly affecting the bones of the wrist and thumb. Individuals with the syndrome may present with missing or underdeveloped thumbs, or other hand and upper limb anomalies.
OMIM, the Online Mendelian Inheritance in Man database, provides comprehensive information about genes and genetic diseases. It is a valuable resource for both clinicians and scientists in the field of genetics. The catalog of genes and diseases from OMIM contains detailed information about the Holt-Oram syndrome, including the associated genes and references to scientific articles.
The TBX5 gene, associated with the Holt-Oram syndrome, is a member of the T-box family of transcription factors. Mutations in this gene lead to abnormal development of the heart and upper limbs. The OMIM catalog provides information about the specific mutations and their effects on individuals with the syndrome.
In addition to the genetic information, the catalog also provides clinical support resources for patients and families affected by the Holt-Oram syndrome. This includes information about genetic testing, advocacy organizations, and other resources for individuals living with the condition.
In summary, the catalog of genes and diseases from OMIM is a valuable tool for researchers, clinicians, and patients interested in learning more about the Holt-Oram syndrome. It provides comprehensive information about the genetic causes, clinical features, and frequency of this rare condition, as well as additional resources for support and testing.
Scientific Articles on PubMed
The Holt-Oram syndrome is a rare condition characterized by additional bone development in the upper limbs, specifically affecting the wrists and thumbs. It is estimated to occur with a frequency of 1 in 100,000 individuals.
The inheritance of Holt-Oram syndrome follows an autosomal dominant pattern, meaning that a person can inherit the condition if they receive the mutated gene from either parent. Researchers have identified a novel gene, known as the TBX5 gene, which is associated with this condition. The TBX5 gene plays a role in the development of both the heart and the upper limbs.
Several scientific articles on PubMed provide valuable information about Holt-Oram syndrome. These articles explore the clinical manifestations of the condition, patient case studies, genetic testing and counseling, and possible treatment options. They also discuss the associated cardiac abnormalities and the importance of early diagnosis and intervention.
A center of expertise has been established for Holt-Oram syndrome, providing resources and support for individuals and families affected by this rare condition. The center collaborates with researchers and clinicians to learn more about the underlying causes and potential treatment options. They also advocate for genetic testing and provide support and advocacy for individuals with Holt-Oram syndrome.
The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for in-depth information about Holt-Oram syndrome. It provides detailed descriptions of the condition, associated genes, and references to scientific articles and other relevant resources. OMIM is regularly updated with the latest research findings and clinical recommendations.
References
- Mathijssen IB, et al. Holt-Oram Syndrome. GeneReviews. 2010.
- Basson CT, et al. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997;15(1):30-35.
- Borozdin W, et al. Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome: a unique combination of the Holt-Oram syndrome and athyreosis. Horm Res. 2008;69(1):33-38.
References
- Mathijssen IB, et al. Holt-Oram syndrome: a medical genetic-clinical survey. Eur J Hum Genet. 2010 Apr;18(4):396-401. Available from: https://pubmed.ncbi.nlm.nih.gov/19826447/
- Holt-Oram syndrome. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/holt-oram-syndrome
- T-box genes and heart development. Cardiology Research and Practice. Available from: https://www.cardiologyresearch.org/content/t-box-genes-and-heart-development
- Holt-Oram syndrome. Online Mendelian Inheritance in Man (OMIM). Available from: https://www.omim.org/entry/142900
- Holt-Oram syndrome. Rarediseases.info.nih.gov. Available from: https://rarediseases.info.nih.gov/diseases/4434/holt-oram-syndrome
- Holt-Oram syndrome. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/phenotype/149/holt-oram-syndrome
