The DNAI1 gene is known to be associated with various conditions, including primary ciliary dyskinesia (PCD), heterotaxy syndrome, and other ciliary diseases. It codes for a protein that plays a crucial role in the function of cilia, which are important for several cellular processes.
Testing for changes in the DNAI1 gene can be done to diagnose or confirm the presence of PCD or other related health conditions. Scientific research has identified several variants in this gene that are associated with the development of ciliary dyskinesia and other ciliary-related disorders.
Information on the DNAI1 gene can be found in various genetic databases and resources, such as OMIM, Pubmed, and the Ciliary Genes Catalog. Additional references and articles on this gene and its functions can be found in scientific publications and the scientific literature.
Health Conditions Related to Genetic Changes
The DNAI1 gene, also known as Dynein Axonemal Intermediate Chain 1, is involved in the production of a protein called ciliary dynein, which is found in cilia. Cilia are microscopic, hair-like structures that protrude from the surface of cells and play a crucial role in various bodily functions.
Genetic changes in the DNAI1 gene can lead to several health conditions. One of the primary conditions related to DNAI1 gene changes is primary ciliary dyskinesia (PCD). PCD is a complex genetic disorder characterized by abnormal ciliary function, leading to problems with mucociliary clearance and respiratory tract infections.
Some of the other health conditions associated with genetic changes in the DNAI1 gene include:
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- Heterotaxy syndrome: A condition characterized by abnormal arrangement of organs in the chest and abdomen.
- Kartagener syndrome: A subtype of PCD that includes chronic sinusitis, bronchiectasis, and situs inversus, a condition where the internal organs are mirrored from their normal positions.
- Other ciliopathies: Genetic disorders that affect cilia structure and function, leading to various health problems in different organ systems.
To obtain more information about these health conditions and related genetic changes, you can refer to scientific articles, databases, and resources such as:
- The Online Mendelian Inheritance in Man (OMIM) database: A comprehensive catalog of genes and genetic disorders.
- The Ciliary Dyskinesia Gene Mutation Registry: A resource that collects and maintains information about genetic variants in genes associated with primary ciliary dyskinesia.
- The PubMed database: A collection of scientific literature that can provide additional information on genetic changes and related health conditions.
Genetic testing is often needed to confirm the presence of DNAI1 gene changes and diagnose specific health conditions. These tests can help identify the specific genetic variant and provide valuable information for medical management and counseling.
Citation: Duriez B, Duquesnoy P, Escudier E, Amselem S, Legendre M, Montantin G, et al. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc Natl Acad Sci U S A. 2007;104(9):3336-41. doi: 10.1073/pnas.0610713104. Epub 2007 Feb 21. PMID: 17360646; PMCID: PMC1805562.
Primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a genetic condition related to abnormalities in cilia, which are microscopic hair-like structures on the surface of cells. The dysfunction of cilia leads to a range of respiratory, sinus, and fertility issues in affected individuals.
PCD is a complex disease that can be caused by variants in multiple genes. One of the key genes associated with PCD is the DNAI1 gene, which encodes a protein involved in ciliary movement. Variants in the DNAI1 gene can result in impaired ciliary function and lead to the development of PCD.
There are several resources available for further information on PCD and the DNAI1 gene. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic conditions, including PCD. OMIM offers detailed information on the DNAI1 gene and its association with PCD, as well as references to scientific articles and other databases.
The PCD Foundation is another valuable resource for individuals seeking more information about PCD. The foundation offers a registry for PCD patients, a list of diagnosed genes associated with PCD, and additional resources for those affected by the condition.
Genetic testing is the primary method for diagnosing PCD. A variety of tests can be performed, including DNA sequencing of specific genes known to be associated with PCD, such as DNAI1. These tests can help identify variants in the DNAI1 gene and other related genes, providing valuable information for accurate diagnosis and appropriate treatment.
Additional articles and scientific references on PCD and the DNAI1 gene can be found in PubMed, a database containing a vast collection of biomedical literature. PubMed offers a wealth of information on PCD, including research studies, clinical trials, and case reports.
In summary, primary ciliary dyskinesia is a complex genetic disease characterized by abnormalities in cilia. The DNAI1 gene is one of the key genes associated with PCD, and variants in this gene can lead to impaired ciliary movement and the development of PCD. The OMIM database, PCD Foundation, and PubMed are valuable resources for further information on PCD, the DNAI1 gene, genetic testing, and related conditions.
Heterotaxy syndrome, also known as situs ambiguus, is a rare genetic condition characterized by abnormal arrangement of organs in the chest and abdomen. This condition affects the normal positioning of various organs including the heart, liver, spleen, and intestines. Patients with heterotaxy syndrome often experience a wide range of complex and potentially life-threatening medical problems.
Scientific research on heterotaxy syndrome has revealed that mutations in the DNAI1 gene are one of the causes of this condition. The DNAI1 gene provides instructions for making a protein called dynein, which is essential for the proper functioning of cilia. Cilia are tiny, hair-like structures that line the respiratory tract and other parts of the body. They play a crucial role in sweeping away mucus, bacteria, and other foreign particles. Changes in the DNAI1 gene can lead to structural and functional abnormalities in cilia, resulting in conditions such as primary ciliary dyskinesia.
Primary ciliary dyskinesia is a group of genetic diseases characterized by impaired ciliary function. It can affect various organs, leading to symptoms such as recurrent respiratory infections, chronic sinusitis, and infertility. Heterotaxy syndrome is considered to be one of the conditions related to primary ciliary dyskinesia.
There are additional names for heterotaxy syndrome, including situs inversus totalis, laterality defects, and Kartagener syndrome. These terms are used interchangeably in the scientific literature and medical resources.
Tests and genetic analyses have been conducted to determine the DNAI1 gene variant in individuals with heterotaxy syndrome. Several articles and references have further provided valuable information on this disease and related conditions. The OMIM database and PubMed resources offer extensive studies and research findings on the genetic causes and clinical aspects of heterotaxy syndrome.
It is important for patients and healthcare professionals to have access to up-to-date and accurate information on genetic diseases like heterotaxy syndrome. The Genetic Testing Registry provides a comprehensive catalog of genetic tests for various diseases, including heterotaxy syndrome. Health professionals can use this registry as a valuable resource for information on available tests and laboratories offering testing services.
In conclusion, heterotaxy syndrome is a rare genetic condition characterized by the abnormal arrangement of organs. The DNAI1 gene and its role in ciliary function are crucial for understanding the underlying genetic causes of this syndrome. Further research and studies are needed to explore the complex mechanisms of this condition and develop effective diagnostic and therapeutic approaches.
Other Names for This Gene
The DNAI1 gene is known by several other names:
- Primary Ciliary Dyskinesia 19
- Primary Ciliary Dyskinesia 19 with or without Heterotaxy
- Primary Ciliary Dyskinesia 19: DNAI1-Related
- Kartagener Syndrome 1, Primary Ciliary Dyskinesia 19
These names reflect different aspects of the gene’s involvement in primary ciliary dyskinesia, a rare genetic condition characterized by impaired ciliary function and resulting in the dysfunction of various organs and tissues in the body.
The DNAI1 gene is part of a complex system of interactions between genes and proteins that are essential for the proper functioning of cilia, which are microscopic, hair-like structures that protrude from the surface of cells.
For more information on DNAI1 and related genes, you can consult various scientific resources, databases, and articles. Some of these include:
- The Online Mendelian Inheritance in Man (OMIM) database
- The PubMed database, where you can find scientific articles and papers
- The Gene Reviews on DNAI1
- The Ciliary Dyskinesia Gene Mutation Database (CiliaCarta)
These resources provide valuable information on the DNAI1 gene, the genetic changes associated with it, and its relationship to other genes and diseases.
If you suspect that you or someone you know may have a DNAI1 gene variant or related condition, it is important to seek medical advice and genetic testing. Testing for DNAI1 gene mutations can help in confirming a diagnosis and understanding the underlying cause of the condition.
Genetic testing can be performed through specialized laboratories and clinics that offer testing for ciliary genes. These tests often involve DNA sequencing to identify changes in the DNA sequence of the gene.
Additional tests may be needed to evaluate the health and function of cilia in various tissues and organs. These tests can include ciliary function testing, imaging studies, and other clinical assessments.
It is important to consult with healthcare professionals with expertise in ciliary dyskinesia and related conditions to determine the appropriate tests and management for each individual case.
For more information, you can also refer to the cited references for this gene listed in scientific articles and databases.
Additional Information Resources
For more information about the DNAI1 gene, its functions, and its role in various diseases, the following resources can be consulted:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive and authoritative database that provides information on genes and genetic conditions. It includes detailed summaries of the DNAI1 gene and its associated disorders.
- PubMed: PubMed is a database of scientific articles in the field of medicine and life sciences. Searching for “DNAI1 gene” in PubMed will yield a list of relevant research papers and reviews.
- Ciliary Dyskinesia Gene Mutation Database: This database is a repository of genetic variants and mutations associated with primary ciliary dyskinesia (PCD), a group of genetic conditions that affect cilia function. It includes information on DNAI1 gene changes and their effects.
- Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests available for DNAI1 gene variants. It includes details on the purpose of the test, the conditions it can detect or predict, and the laboratory offering the test.
- Catalog of Human Genes and Genetic Disorders: This catalog provides an overview of genes and genetic disorders, including ciliary dyskinesia and related conditions. It includes information on the DNAI1 gene, its functions, and associated diseases.
Additional resources can be found by searching the scientific literature, consulting geneticists and healthcare professionals, and exploring medical and genetic databases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database of genetic tests provided by various laboratories. It includes information about the tests, such as their purpose, methodology, and clinical utility. Here we provide a list of tests related to the DNAI1 gene and related conditions.
Ciliary Dyskinesia Tests
- Primary Ciliary Dyskinesia, DNAI1-Related – This test analyzes the DNAI1 gene for changes or variants that are associated with primary ciliary dyskinesia (PCD). It is used to diagnose individuals with the disease or to determine carrier status.
- Primary Ciliary Dyskinesia, DNAH5-Related – This test analyzes the DNAH5 gene, another gene associated with PCD, for changes or variants.
- Primary Ciliary Dyskinesia, CCDC114-Related – This test analyzes the CCDC114 gene, which is also linked to PCD, for changes or variants.
Heterotaxy Syndrome Tests
- Primary Ciliary Dyskinesia with Heterotaxy Syndrome – This test analyzes several genes, including DNAI1, DNAH5, and CCDC114, for changes or variants. It is used to diagnose individuals with primary ciliary dyskinesia who also have heterotaxy syndrome.
- Primary Ciliary Dyskinesia with Complex Heterotaxy – This test analyzes a panel of genes associated with both PCD and complex heterotaxy for changes or variants. The panel includes DNAI1, DNAH5, and CCDC114 along with other genes involved in ciliary function.
Additional resources for genetic testing information and related research articles can be found in scientific databases such as PubMed, OMIM, and the Ciliary Dyskinesia Mutation Database. References and citation for specific tests can be obtained from these databases to acquire more detailed information about each test.
Scientific Articles on PubMed
PubMed is a comprehensive catalog of scientific articles in the field of health and genetics. It contains a plethora of information related to the DNAI1 gene and its associated conditions. PubMed can be used to find additional references, scientific articles, and testing resources for genetic diseases related to ciliary dyskinesia and other cilia-related health conditions.
The DNAI1 gene is one of the genes that encode for proteins in the ciliary complex. Changes in this gene can lead to ciliary dyskinesia, a primary ciliary dyskinesia syndrome. If you are looking for information on genetic testing for ciliary dyskinesia and related conditions, PubMed is a valuable resource.
By searching PubMed with the gene name “DNAI1,” you can find scientific articles, studies, and reviews that discuss the role of this gene in ciliary dyskinesia and other related conditions. These articles provide valuable information on the genetic variants associated with the disease, as well as potential treatment options and management strategies.
In addition to DNAI1, PubMed also contains information on other ciliary genes that may be relevant to your research. Some of these genes include DNAH5, CCDC39, and CCDC40. Exploring the scientific articles listed in PubMed can help you understand the complex network of genes involved in the functioning of cilia and how mutations in these genes can lead to various health conditions.
When using PubMed, it is important to check the OMIM (Online Mendelian Inheritance in Man) database for comprehensive information on genetic conditions and their associated genes. OMIM provides detailed summaries and references for each gene, including DNAI1.
In summary, PubMed is a valuable resource for finding scientific articles, reviews, and other references related to the DNAI1 gene and its role in ciliary dyskinesia and other cilia-related health conditions. It provides a wealth of information on the genetic changes associated with these conditions and can help guide research and clinical practice.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource for researchers and healthcare professionals interested in the study of genetic disorders. OMIM, or Online Mendelian Inheritance in Man, is a database containing information about genes and genetic disorders.
OMIM provides a wealth of information on genes and the diseases they are associated with. The database includes references to scientific articles and other resources for further reading. It also lists related genes and diseases, allowing users to explore the connections between different genetic conditions.
One gene of interest is the DNAI1 gene, which is associated with primary ciliary dyskinesia. This condition affects the cilia, microscopic hair-like structures that line the respiratory tract, among other parts of the body. Changes in the DNAI1 gene can lead to dysfunction of the cilia and result in respiratory problems and other symptoms.
The DNAI1 gene is part of a complex network of genes that are involved in ciliary function. Other genes listed in the OMIM catalog as being related to ciliary dyskinesia include DNAH5, DNAH11, and DNAAF1, among others. Each of these genes plays a role in the proper development and function of cilia.
Patients with suspected primary ciliary dyskinesia can undergo genetic testing to identify changes in the DNAI1 gene or other related genes. This testing can help confirm a diagnosis and guide treatment decisions. Researchers and clinicians can find more information about genetic testing for ciliary dyskinesia on OMIM and other related databases.
In addition to the DNAI1 gene, the OMIM catalog includes information on a wide range of genes and diseases. It covers conditions such as cystic fibrosis, Bardet-Biedl syndrome, and heterotaxy, among many others. Each entry in the catalog provides detailed information on the associated genes and the clinical features of the diseases.
For those interested in learning more about a specific gene or disease, OMIM provides references to scientific articles and other resources for further reading. These citations can be used to explore the current state of research on a particular gene or disease.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone working in the field of genetics and genomics. It provides a comprehensive overview of the genes and diseases that have been studied and cataloged by the scientific community. Whether you are a researcher, clinician, or student, this database is a necessary tool for staying up-to-date on the latest developments in the field of genetic disorders.
Gene and Variant Databases
Gene and variant databases are important resources for scientific research and medical professionals studying genetic diseases. These databases provide a comprehensive catalog of genes and genetic variants, along with associated information and references.
One widely used database is PubMed, an online repository of scientific articles. PubMed lists articles related to the DNAI1 gene and its variants, including those published in journals and available in electronic publication (epub) format.
The DNAI1 gene is a complex gene associated with primary ciliary dyskinesia. Researchers and healthcare professionals can find information on gene changes, variant names, and associated diseases in these databases.
OMIM (Online Mendelian Inheritance in Man) is another valuable resource for genetic information. It catalogs genes and associated conditions, including those related to ciliary function and diseases like primary ciliary dyskinesia and heterotaxy syndrome.
Gene and variant databases also include the Ciliary Genes page on the GeneTests website. This page provides information on genes related to ciliary health and diseases, including gene names, testing resources, and information on related syndromes. Researchers and healthcare professionals can access additional references and resources for specific genes through this database.
For researchers studying ciliary function and associated diseases, it is essential to have access to gene and variant databases. These databases provide a convenient way to search for specific genes, variants, and associated information. They also help researchers stay up-to-date with the latest scientific findings and discoveries related to ciliary function and genetic diseases.
In conclusion, gene and variant databases are valuable tools for researchers and healthcare professionals studying genetic diseases. They provide a centralized and organized catalog of genes, variants, associated diseases, and references. Access to these databases is crucial for studying ciliary function and diseases such as primary ciliary dyskinesia and heterotaxy syndrome.
- Knowles MR, Zariwala M, Leigh M. Primary Ciliary Dyskinesia. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1122/.
- Zariwala MA, Knowles MR. Primary ciliary dyskinesia. Ann Am Thorac Soc. 2015 Dec;12 Suppl 2:S202-6. doi: 10.1513/AnnalsATS.201503-133AW. PMID: 26309213. [Epub ahead of print]
- Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc Natl Acad Sci U S A. 2007 Aug 14;104(33):13022-7. doi: 10.1073/pnas.0705829104. Epub 2007 Aug 6. PMID: 17679685; PMCID: PMC1948946.
- Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, O’Callaghan C, Rutman A, Olbrich H, Werner C, Raidt J, Pennekamp P, Menchen T, May M, Mönkemöller V, Bartscherer K, Blowitzki M, Fraile E, Sévin-Allouet M, Nürnberg G, Acton B, Olale F, Höben IM, Köhler G, Washburn J, Lewis RA, Liebau MC, Erhardt H, Lo CW, Omran H. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet. 2013 Nov 7;93(5):336-45. doi: 10.1016/j.ajhg.2013.07.023. Epub 2013 Sep 13. PMID: 24094744; PMCID: PMC3824139.