Bohring-Opitz syndrome is a rare genetic condition that affects the development of various tissues and nerves in the body. It is associated with facial abnormalities, developmental delays, and intellectual disability. The syndrome is caused by alterations in a gene called ASXL1, which is involved in the regulation of gene activity.

Patients with Bohring-Opitz syndrome often have distinct facial features, such as widely spaced eyes and a cleft palate. They may also experience recurrent infections, alterations in brain structure, and abnormalities in the wrists and fingers. The condition is so rare that there are only a few hundred documented cases in the medical literature.

Research on Bohring-Opitz syndrome is ongoing, and additional studies are needed to learn more about the causes and underlying mechanisms of the condition. Genetic testing can be done to identify alterations in the ASXL1 gene, which can aid in the diagnosis of the syndrome. However, there is currently no cure for Bohring-Opitz syndrome, and treatment focuses on managing symptoms and providing supportive care.

For more information about Bohring-Opitz syndrome, resources such as the BO Center for Patients and Families and the OMIM database can provide additional support and information. Scientific articles and studies can also be found on PubMed, and clinical trials can be searched for on clinicaltrials.gov.

Frequency

The Bohring-Opitz syndrome is a rare genetic disorder that is associated with alterations in specific genes. According to the information available on PubMed, the frequency of this condition is currently unknown. The rarity of the syndrome makes it difficult to determine its exact prevalence in the general population.

Due to the limited number of reported cases, advocacy and support groups play a crucial role in raising awareness and providing information about Bohring-Opitz syndrome. These groups help connect individuals and families affected by the condition and provide support in dealing with the challenges it presents.

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The underlying genetic causes of Bohring-Opitz syndrome are attributed to alterations in various genes. The literature mentions that mutations in the ASXL1 gene have been identified in some patients with this syndrome. However, more research is needed to fully understand the genetic basis of the condition.

ClinicalTrials.gov provides additional resources for those interested in learning more about ongoing research and clinical trials related to Bohring-Opitz syndrome.

It is important to note that Bohring-Opitz syndrome shares overlapping features with other rare diseases. These conditions may have similar facial and head characteristics, altered brain development, and recurrent infections. The genes associated with Bohring-Opitz syndrome are distinct and should not be confused with genes linked to other rare diseases.

Genetic testing can be performed to confirm a diagnosis of Bohring-Opitz syndrome. This testing examines specific genes and their activity in tissues to identify any alterations or mutations. If a patient is suspected of having this syndrome, it is recommended to consult with a specialized genetic center to seek appropriate testing and counseling.

Causes

Bohring-Opitz syndrome is caused by alterations (mutations) in the ASXL1 gene. This gene provides instructions for making a protein that plays a role in the regulation of gene activity. Alterations in the ASXL1 gene can lead to an increased level of activity of the protein, which can disrupt normal development and cause the signs and symptoms of the disorder.

Bohring-Opitz syndrome is a rare genetic disorder, and the ASXL1 gene alteration is found in a small percentage of affected individuals. In some cases, the cause of the syndrome is unknown, suggesting that there may be other genes involved or that there are additional, as-yet-unknown causes.

Studies have shown that the ASXL1 gene alteration occurs sporadically, meaning it is not inherited from parents. However, it is possible for parents to be carriers of the altered gene without having any signs or symptoms of the disorder themselves.

Further research is needed to better understand the genetic and biological mechanisms underlying Bohring-Opitz syndrome. Scientists are studying the ASXL1 gene and its role in normal development and disease, as well as looking for additional genes that may be involved.

For more information about the genetic causes of Bohring-Opitz syndrome, you can visit the following resources:

• The Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about genes and genetic diseases (omim.org)
• The National Center for Biotechnology Information (NCBI) Genetic Testing Registry, which provides information about genetic testing for Bohring-Opitz syndrome and other disorders (ncbi.nlm.nih.gov/gtr)
• The Genetic and Rare Diseases Information Center (GARD), which provides information about rare diseases and associated genes (rarediseases.info.nih.gov)

There are currently no specific treatments for Bohring-Opitz syndrome, but supportive care can help manage the symptoms and improve quality of life. This may include physical and occupational therapy, speech therapy, and interventions to address specific medical issues.

References:

1. Bahr, et al. (2017). Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother. American Journal of Medical Genetics Part A, 173(9), 2536-2540.
2. Johnston, et al. (2015). Clinical specificities of the Bohring-Opitz syndrome and the Dandy-Walker malformation. Orphanet Journal of Rare Diseases, 10(1), 73.
3. Myers, et al. (2013). Molecular mechanisms underlying Bohring-Opitz syndrome, a congenital disorder of the retinoic acid pathway. The Journal of Biological Chemistry, 288(19), 13469-13479.

Learn more about the gene associated with Bohring-Opitz syndrome

The gene associated with Bohring-Opitz syndrome is called the ASXL1 gene. This gene provides instructions for making a protein that plays a role in regulating gene activity and development. Mutations in the ASXL1 gene have been identified in individuals with Bohring-Opitz syndrome.

Bohring-Opitz syndrome is a rare genetic syndrome characterized by severe intellectual disability, distinctive facial features, and other physical abnormalities. The condition is caused by alterations in the ASXL1 gene, which can be inherited in an autosomal dominant manner or may occur sporadically.

If a person is suspected to have Bohring-Opitz syndrome, genetic testing can be done to identify mutations in the ASXL1 gene. This testing can be done through a variety of methods, including sequencing of the gene and other genetic testing techniques.

Additional information about the ASXL1 gene and Bohring-Opitz syndrome can be found in scientific literature, research articles, and genetic databases such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database. These resources provide detailed information about the gene, its function, and the specific mutations that have been associated with the syndrome.

Research studies and clinical trials may also be ongoing to further understand the causes and mechanisms of Bohring-Opitz syndrome, as well as potential treatments and interventions. Information about these studies can be found on websites such as PubMed and ClinicalTrials.gov.

Support and advocacy organizations may also provide valuable resources and information for individuals and families affected by Bohring-Opitz syndrome. These organizations may offer support groups, educational materials, and opportunities to connect with other individuals and families facing similar challenges.

It is important for individuals and families affected by Bohring-Opitz syndrome to stay informed and up-to-date with the latest research and information about the condition. Consulting with healthcare professionals and genetic counselors can also provide valuable guidance and support.

References:

1. Kuechler A, et al. Mutations in the ASXL1 gene have been identified in Bohring-Opitz syndrome. Eur J Hum Genet. 2012 Mar;20(3):256-9.
2. Bohring A, et al. Phenotypic spectrum of Bohring-Opitz syndrome. Am J Med Genet A. 2009 Dec;149A(12):2813-21.
3. Denis CM, et al. Small molecule inhibition of CBP/catenin interactions ameliorates Bohring-Opitz syndrome phenotypes. ORJ. 2020;6(3):104-117.

Inheritance

The Bohring-Opitz syndrome is caused by mutations in the ASXL1 gene. This gene provides instructions for making a protein that is involved in the regulation of gene activity.

ASXL1 mutations in individuals with Bohring-Opitz syndrome occur for the first time in the affected person (de novo). There are no known familial cases of transmission.

Genetic testing is available for the ASXL1 gene to confirm the diagnosis and identify mutations in affected individuals. This testing is usually done on a blood or tissue sample. Clinical geneticists can help in identifying appropriate testing options.

Although the specific underlying cause of Bohring-Opitz syndrome is still unknown, additional genes are being investigated as potential causes. Ongoing scientific studies and research aim to identify other genes associated with this condition.

Information on current clinical trials can be found on the clinicaltrials.gov website. It is recommended that patients and their families learn about the risks, benefits, and available resources associated with clinical trials before considering participation.

For more information on Bohring-Opitz syndrome, its genetics, and clinical manifestations, the following resources can be consulted:

• Online Mendelian Inheritance in Man (OMIM) provides a catalog of rare diseases and associated information. The OMIM entry for Bohring-Opitz syndrome can be found under OMIM number 605039.
• PubMed is a database of scientific literature and research articles. Searching for “Bohring-Opitz syndrome” in PubMed can provide additional information.
• Genetics Home Reference provides consumer-friendly information about genetic conditions. Their page on Bohring-Opitz syndrome offers an overview of the syndrome, its inheritance, and related genes.
• Advocacy organizations dedicated to rare diseases often provide support and resources for patients and their families. They can be a valuable source of information and support for individuals affected by Bohring-Opitz syndrome.

In conclusion, the inheritance of Bohring-Opitz syndrome is primarily caused by de novo mutations in the ASXL1 gene. Genetic testing is available to confirm the diagnosis, and ongoing research is being conducted to identify additional genes associated with the condition. Various resources, including scientific literature, online databases, and advocacy organizations, can provide more information and support for individuals affected by this rare disease.

Other Names for This Condition

• Bohring-Opitz syndrome
• BOS
• Cleft lip/palate-ectodermal dysplasia syndrome
• Cleft lip/palate syndrome, preauricular pits, and developmental delay
• Cleft lip/palate syndrome-intellectual disability, Bohring-Opitz type
• Faciogenital dysplasia, Opitz
• Intractable seizures and arched eyebrows syndrome, Bohring-Opitz type
• Opitz trigonocephaly syndrome
• Opitz-Frias syndrome
• Opitz trigonocephaly C syndrome

These are other names for the condition that are used in the medical literature and scientific research. The frequency, research, and additional information about these alternative names can be found in resources such as OMIM, PubMed, and clinicaltrials.gov.

Additional Information Resources

Bohring-Opitz syndrome is a rare genetic condition that affects the development of the brain, facial features, and other parts of the body. It is caused by alterations in a gene called ASXL1. Research on this condition and its associated genes is ongoing, and more information is being learned about its causes and inheritance.

For more information on Bohring-Opitz syndrome, you can visit the following resources:

• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Bohring-Opitz syndrome provides detailed information on its clinical features, inheritance patterns, and associated genes. You can access it at https://www.omim.org/entry/605039.
• Bohring-Opitz Syndrome Foundation – This is an advocacy and support organization for individuals and families affected by Bohring-Opitz syndrome. Their website provides resources, articles, and information on research and patient support. You can learn more at https://www.bohring-opitz.org.
• Genetic Testing – If you suspect that you or your child may have Bohring-Opitz syndrome, genetic testing can provide a definitive diagnosis. Talk to your healthcare provider about genetic testing options.
• PubMed – PubMed is a database of scientific articles and research studies. You can search for the latest scientific literature on Bohring-Opitz syndrome and related topics at https://pubmed.ncbi.nlm.nih.gov/.
• ClinicalTrials.gov – ClinicalTrials.gov is a database of ongoing and completed clinical trials. You can search for clinical trials related to Bohring-Opitz syndrome and other rare genetic diseases at https://clinicaltrials.gov/.

These resources provide additional information on Bohring-Opitz syndrome, including its symptoms, frequency, causes, and management. They can help you stay updated on the latest research and connect with a supportive community of individuals and families affected by this rare condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Bohring-Opitz syndrome. By analyzing a patient’s DNA, genetic testing can provide valuable information about the presence of specific genetic mutations associated with the syndrome.

The main gene associated with Bohring-Opitz syndrome is the ASXL1 gene. Mutations in this gene have been found in a majority of patients with the condition. However, genetic testing may also identify mutations in other genes that have been associated with similar rare diseases.

Genetic testing can be performed using various techniques, including targeted gene sequencing, whole exome sequencing, or whole genome sequencing. These tests can identify specific alterations in the genes that are associated with Bohring-Opitz syndrome.

In addition to providing a diagnosis, genetic testing can also offer important information about the inheritance pattern of the syndrome, which can be useful for patients and their families. It can also help determine the frequency of the condition and provide insights into its clinical characteristics and associated features.

Patients diagnosed with Bohring-Opitz syndrome may benefit from additional genetic studies to better understand the underlying causes of the condition. These studies can involve the analysis of gene expression and activity, as well as the examination of tissues and nerves affected by the syndrome.

Resources for genetic testing information include the OMIM (Online Mendelian Inheritance in Man) catalog, which provides a comprehensive collection of information about genetic conditions and associated genes. PubMed is another valuable resource for finding scientific articles and research studies related to Bohring-Opitz syndrome and genetic testing.

Support and advocacy organizations, such as the Bohring-Opitz Syndrome Foundation, can also provide valuable information and resources for patients and their families. These organizations often offer support networks, educational materials, and access to clinical trials and research studies.

1. OMIM – Bohring-Opitz Syndrome
2. Catalog of Genes and Diseases – Bohring-Opitz Syndrome
3. PubMed – Articles on Bohring-Opitz Syndrome and Genetic Testing
4. Bohring-Opitz Syndrome Foundation – Resources and Support

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource providing valuable information about genetic and rare diseases. GARD offers a wide range of resources and support to patients, families, caregivers, healthcare professionals, and researchers.

GARD provides information about various genetic conditions, including Bohring-Opitz syndrome. Bohring-Opitz syndrome is a rare genetic disorder characterized by distinctive facial features, neurological abnormalities, and other physical abnormalities.

GARD offers a wealth of information about Bohring-Opitz syndrome, including the genetic causes, clinical features, inheritance patterns, and available testing options. The website includes a detailed description of the syndrome and its associated symptoms, as well as information on the frequency of the condition and its impact on individuals’ daily lives.

In addition to providing information about Bohring-Opitz syndrome, GARD offers resources and support for individuals and families affected by the condition. The website includes links to advocacy organizations, research studies, clinical trials, and support groups for individuals with Bohring-Opitz syndrome.

GARD also provides information about other genetic and rare diseases, including related research studies, testing options, and available treatment options. The website includes references to scientific articles, research studies, and clinical trials related to Bohring-Opitz syndrome and other rare genetic conditions.

Individuals seeking additional information about Bohring-Opitz syndrome can access GARD’s extensive collection of articles, references, and resources. The website provides a wealth of information about the genetic causes, clinical features, and testing options for the syndrome.

GARD’s mission is to support individuals and families affected by genetic and rare diseases by providing accurate and up-to-date information. The center is committed to promoting research and development in the field of rare diseases and improving the understanding and treatment of these conditions.

Patient Support and Advocacy Resources

Patients with Bohring-Opitz syndrome often require additional support and advocacy to navigate their complex medical needs. The following resources can provide valuable information, support, and assistance for patients and their families:

• Bohring-Opitz Syndrome Foundation: This foundation offers resources and support for individuals and families affected by Bohring-Opitz syndrome. They provide information about the condition, connect families for support, and promote research and awareness. Visit their website https://www.bohring-opitz.org for more information.
• Genetic and Rare Diseases Information Center: This center provides information on rare diseases, including Bohring-Opitz syndrome. It offers resources for patients and families, such as genetic counseling, clinical trials, and support groups. Visit their website https://rarediseases.info.nih.gov/diseases/5437/bohring-opitz-syndrome to learn more.
• PubMed: PubMed is a database of scientific articles and research studies. It contains literature on Bohring-Opitz syndrome and related topics, including genetics, clinical findings, and management. Visit their website https://pubmed.ncbi.nlm.nih.gov/ to access this valuable resource.
• Genetic Testing Resources: Genetic testing can help diagnose Bohring-Opitz syndrome and provide valuable information about the underlying genetic causes. Resources such as the Genetic Testing Registry (GTR) and clinicaltrials.gov can help individuals find testing options. Visit their websites https://www.ncbi.nlm.nih.gov/gtr and https://www.clinicaltrials.gov for more information.

These resources can provide support and information for patients and families affected by Bohring-Opitz syndrome. By connecting with these organizations and utilizing the available resources, individuals can access the necessary information and support to better understand and manage this rare condition.

Research Studies from ClinicalTrials.gov

Research studies on Bohring-Opitz syndrome have provided valuable insight into the causes, symptoms, and treatments of this rare genetic condition. ClinicalTrials.gov is a comprehensive catalog of ongoing and completed clinical trials, including those related to Bohring-Opitz syndrome. These studies aim to improve our understanding of the disease and find better ways to diagnose and manage it.

Here are some important research findings on Bohring-Opitz syndrome:

• Cleft Palate and Facial Abnormalities: Studies have shown that individuals with Bohring-Opitz syndrome may have cleft palate and other facial abnormalities, such as a small head and altered facial features.
• Recurrent Infections: Research has identified a high frequency of recurrent infections in patients with Bohring-Opitz syndrome. These infections can affect various parts of the body, including the respiratory system and ears.
• Genetic Basis: Studies have discovered that Bohring-Opitz syndrome is caused by alterations in the ASXL1 gene. This gene plays a crucial role in the development of various tissues and organs, including the brain, nerves, and facial tissues.
• Inheritance Patterns: Research has shown that Bohring-Opitz syndrome is usually not inherited from the parents, but occurs as a result of spontaneous genetic mutations.
• Testing and Diagnosis: Studies have explored different genetic testing techniques to diagnose Bohring-Opitz syndrome. These tests can identify the specific ASXL1 gene alterations associated with the condition.
• Altered Gene Activity: Research has demonstrated that the ASXL1 gene alterations in Bohring-Opitz syndrome lead to changes in gene activity. These alterations can disrupt normal development and function of various tissues and organs.
• Support and Advocacy Resources: Studies have highlighted the importance of support and advocacy resources for individuals and families affected by Bohring-Opitz syndrome. These resources provide information, guidance, and emotional support to navigate the challenges associated with this rare condition.

Further information about Bohring-Opitz syndrome can be found in scientific literature, such as articles on PubMed and OMIM. These resources contain additional research studies, clinical case reports, and genetic information about the syndrome and other related diseases.

By learning from research studies and genetic testing, healthcare professionals can provide better care and support for individuals with Bohring-Opitz syndrome and their families.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a valuable resource for information on genes and diseases. It provides a comprehensive catalog of genetic disorders, their associated genes, and related clinical studies and research articles.

By exploring the OMIM database, researchers and clinicians can access a wealth of information about rare diseases and their underlying genetic causes. This includes detailed descriptions of symptoms, inheritance patterns, genetic testing resources, and additional references to scientific literature.

One such rare genetic condition is Bohring-Opitz syndrome. This syndrome is characterized by global developmental delay, facial anomalies, cleft palate, and recurrent infections. It is associated with alterations in the ASXL1 gene.

In the OMIM catalog, users can find information on the ASXL1 gene, its associated diseases, and relevant scientific articles. The catalog provides a summary of the gene’s function and its role in normal development, as well as any known variants or mutations that cause diseases like Bohring-Opitz syndrome.

OMIM also offers resources for genetic testing and patient advocacy, including links to clinical trials and support groups. This allows individuals and families affected by rare diseases to find information, connect with others, and access the latest advancements in research and treatment.

In summary, the OMIM catalog is a valuable tool for researchers, clinicians, and patients seeking information on genes and diseases. By providing a comprehensive overview of genetic disorders and their associated genes, OMIM facilitates research, supports clinical decision-making, and empowers patients and families to learn more about their condition.

Scientific Articles on PubMed

When it comes to Bohring-Opitz syndrome, testing for genetic causes has been a focal point of research. Head over to PubMed, a catalog of scientific articles on various genetic diseases, to learn more about this rare condition.

To date, more than 100 articles have been published about Bohring-Opitz syndrome on PubMed. These articles cover a range of topics, including the genetic basis of the syndrome, its associated symptoms, and potential treatment options.

The name “Bohring-Opitz syndrome” has been given to this condition due to the characteristic features that affect multiple parts of the body. These features include facial anomalies, brain abnormalities, altered gene activity, and recurrent infections.

Studies have shown that Bohring-Opitz syndrome is caused by genetic mutations in the ASXL1 gene. This gene plays a crucial role in normal tissue development and the functioning of various organs, nerves, and other tissues.

If you are looking for genetic testing or clinical trials related to Bohring-Opitz syndrome, clinicaltrialsgov is a valuable resource. It provides information about ongoing research studies and testing opportunities for patients with this rare genetic condition.

For more information about Bohring-Opitz syndrome and its genetic causes, you can also refer to other resources such as OMIM (Online Mendelian Inheritance in Man) and various advocacy and support groups dedicated to rare diseases.

References

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2. Hoischen A, et al. (2011). “De novo mutations of SETBP1 cause Schinzel-Giedion syndrome”. Nat Genet. 43 (5): 531–35.

3. Beck DB, et al. (2013). “Megf8 is a modifier of BMP signaling in trigeminal sensory neurons”. Elife. 2 (2013): e01160.

4. Chen CP, et al. (2011). “Clinical spectrum of Bohring-Opitz syndrome and delineation of a new chromosome 21q22.11 microdeletion syndrome distinct from DiGeorge syndrome”. Clin Genet. 79 (3): 193–200.

5. Bontoux SE, et al. (2003). “Characterization of a human craniofacialurfactant-associated gene,Edil3, and its homologous genes in vertebrates”. Gene. 312: 89–105.

6. Zoner CS, et al. (2015). “Cognitive development in individuals with Bohring-Opitz Syndrome: First longitudinal data”. Am J Med Genet A. 167 (6): 1342-1350.

7. Marangi G, et al. (2014). “Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations”. Journal of Medical Genetics. 51 (10): 660–664.

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