17q12 deletion syndrome – Austra Health

17q12 deletion syndrome, also known as renal cysts and diabetes syndrome (RCAD), is a rare genetic condition caused by a deletion of a small piece of chromosome 17 at position q12. The syndrome is associated with a range of clinical features, including renal cysts, early-onset diabetes, developmental disability, and autism. It is thought to be inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the condition on to their children.

This syndrome was first described in 2005 and has since been the focus of scientific studies and research. The frequency of 17q12 deletion syndrome is currently unknown, but it is thought to be rare. Additional names for the condition include chromosome 17q12 deletion syndrome and 17q12 microdeletion syndrome.

Patients with 17q12 deletion syndrome may experience a range of symptoms and disabilities. In addition to renal cysts and diabetes, other clinical features associated with the condition may include intellectual disability, developmental delay, speech delay, seizures, and psychiatric disorders. The exact function of the genes in the deleted region is not fully understood, but they are thought to play a role in the development and function of the central nervous system.

Diagnosis of 17q12 deletion syndrome can be confirmed through genetic testing, such as chromosomal microarray analysis. This testing can identify the deletion on chromosome 17q12 and provide important information about the size and position of the deletion.

There is currently no cure for 17q12 deletion syndrome, and treatment is focused on managing the individual symptoms and disabilities associated with the condition. Supportive resources and advocacy groups can provide additional information and support to families affected by 17q12 deletion syndrome. ClinicalTrials.gov and PubMed are valuable resources for learning about ongoing research studies and scientific articles on the syndrome. The Online Mendelian Inheritance in Man (OMIM) database also provides detailed information on the genetics and clinical characteristics of 17q12 deletion syndrome.

In conclusion, 17q12 deletion syndrome is a rare genetic condition associated with a range of clinical features, including renal cysts, early-onset diabetes, developmental disability, and autism. It is thought to be inherited in an autosomal dominant manner and is caused by a deletion of a small piece of chromosome 17. Diagnosis can be confirmed through genetic testing, and treatment is focused on managing the individual symptoms and disabilities associated with the syndrome. Additional resources and support can be found through advocacy groups and research studies.

Frequency

The 17q12 deletion syndrome is a rare genetic condition that is thought to occur in approximately 1 in 20,000 to 30,000 individuals, according to research studies. However, the exact frequency of this syndrome is not well established due to the limited number of reported cases.

Individuals with the 17q12 deletion syndrome may experience a range of symptoms and clinical features, including renal cysts, autism spectrum disorder, developmental delays, central nervous system abnormalities, and other health issues. The condition is associated with the deletion of a small segment of chromosome 17q12, which affects the function of certain genes in this chromosomal region.

Testing for the 17q12 deletion syndrome can be done through chromosome analysis or genetic testing. It is important to consult with a healthcare professional or genetic counselor for more information about the testing options and to discuss the potential implications of a positive test result.

For more information on the frequency and inheritance of the 17q12 deletion syndrome, the following resources may be helpful:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including the 17q12 deletion syndrome.
PubMed: PubMed is a searchable database of scientific articles and research studies. Searching for the keywords “17q12 deletion syndrome” can provide additional scientific information on this condition.
Genetic Testing: Genetic testing laboratories often provide information on the frequency and clinical features of genetic conditions, including the 17q12 deletion syndrome.
Advocacy Organizations: Advocacy organizations for rare diseases may offer resources, articles, and support for individuals and families affected by the 17q12 deletion syndrome.
ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials that are investigating various genetic conditions. This resource can provide information on ongoing research studies related to the 17q12 deletion syndrome.

In conclusion, the 17q12 deletion syndrome is a rare genetic condition with a frequency estimated to be around 1 in 20,000 to 30,000 individuals. More research and clinical studies are needed to better understand the prevalence and clinical features of this syndrome.

Causes

The 17q12 deletion syndrome is caused by a deletion of genetic material on chromosome 17 at position q12. This rare genetic condition has been the focus of numerous studies and articles, providing more information about its causes and associated symptoms.

Research has shown that the deletion of several genes in this chromosomal region can lead to the development of the 17q12 deletion syndrome. Some of these genes are thought to play a role in the normal development and function of various organs and systems in the body.

The frequency of this genetic condition is rare, with an estimated prevalence of 1 in 63,000 individuals. It has been associated with a range of clinical features, including renal cysts, developmental disability, and autism spectrum disorder.

Individuals with the 17q12 deletion syndrome may inherit the condition from a parent who also has the deletion. However, it can also occur spontaneously in individuals with no family history of the condition.

Additional research is still needed to fully understand the causes and mechanisms of the 17q12 deletion syndrome. Ongoing studies and clinical trials are being conducted to learn more about this condition and its associated genetic factors.

For clinical and genetic testing, patients can refer to resources such as OMIM (Online Mendelian Inheritance in Man), scientific articles, and the GeneTests.org catalog. These resources provide comprehensive information about the syndrome, including clinical features, diagnostic methods, and genetic counseling options.

Advocacy organizations and support groups can provide additional information and support for individuals and families affected by the 17q12 deletion syndrome. These organizations often provide resources, newsletters, and educational materials about the condition, as well as opportunities for networking with other patients and families.

References:

Genet Med. 2010 Nov;12(11):726-32. doi: 10.1097/GIM.0b013e3181f0066b.
OMIM. 17q12 deletion syndrome.
ClinicalTrials.gov. 17q12 deletion syndrome.
PubMed. Search term: 17q12 deletion syndrome.

Learn more about the genes and chromosome associated with 17q12 deletion syndrome

17q12 deletion syndrome is a rare genetic condition caused by the deletion of a specific region on chromosome 17q12. This condition is also known by various other names, such as 17q12 microdeletion syndrome and renal cysts and diabetes syndrome (RCAD). The frequency of this syndrome in the general population is not well known, but it has been reported in individuals with a variety of ethnic backgrounds.

The 17q12 region contains several genes that play important roles in the development and function of various organs and systems in the body. Some of the genes in this region include HNF1B, LHX1, TCF2, and ACACA, among others. Research studies have shown that the deletion of this region can lead to a range of clinical manifestations, including kidney abnormalities, pancreatic dysfunction, developmental delay, intellectual disability, and autism spectrum disorder.

To learn more about 17q12 deletion syndrome and the genes and chromosome associated with it, you can refer to the following resources:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can search for “17q12 deletion syndrome” or specific genes associated with this condition to find more information and references to relevant scientific articles.
PubMed: PubMed is a database of scientific research articles. By searching for “17q12 deletion syndrome” or specific genes associated with this condition, you can find research studies and clinical case reports that provide more insights into the clinical features, inheritance patterns, and genetic testing for this syndrome.
ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials. You can search for ongoing or completed studies related to 17q12 deletion syndrome to find information about the latest research, testing methods, and potential treatments.

Inheritance

The 17q12 deletion syndrome is a genetic condition that can be inherited or can occur sporadically. Research has shown that this syndrome is caused by a deletion on chromosome 17 at position q12.3. This deletion affects several genes, including HNF1B, LHX1, and TBX2.

There is limited information about the frequency of 17q12 deletion syndrome as it is considered a rare condition. However, studies have suggested that it may be more common than previously thought, with a frequency estimated to be around 1 in every 5,000-8,000 individuals.

Inheritance of the 17q12 deletion syndrome can occur in different ways. In some cases, the deletion is inherited from a parent who also has the syndrome. This type of inheritance is known as autosomal dominant. Autosomal dominant means that an affected individual has a 50% chance of passing the deletion on to each of his or her children.

In other cases, the deletion occurs sporadically and is not inherited from either parent. The exact cause of these sporadic cases is unknown, but it is thought to be related to random genetic events that occur during the formation of reproductive cells.

It is important for individuals with the 17q12 deletion syndrome and their families to seek genetic counseling and testing. Genetic testing can confirm the presence of the deletion and provide information about the specific genes that are affected. This information can be helpful for understanding the potential health risks and associated conditions for the individual and their family members.

In addition to genetic testing, clinical examinations and imaging studies may be used to evaluate the presence of associated conditions, such as kidney abnormalities and cysts. Research has found that individuals with the 17q12 deletion syndrome may also have an increased risk for autism spectrum disorder, developmental delay, and intellectual disability.

For more information about the 17q12 deletion syndrome, the Online Mendelian Inheritance in Man (OMIM) database provides detailed scientific articles and references. ClinicalTrials.gov is another valuable resource for finding ongoing research studies and clinical trials related to the syndrome. Furthermore, advocacy and support organizations can provide additional information and resources for patients and families affected by the 17q12 deletion syndrome.

Other Names for This Condition

17q12 deletion syndrome
17q12 microdeletion syndrome
Autism 17q12 deletion syndrome
Renal cysts and diabetes syndrome
Renal cysts and diabetes (RCAD) syndrome
Renal cysts and diabetes mellitus (RCAD) syndrome
Tufting enteropathy
17q12 microdeletion
17q12 deletion
17q12 microdeletion disorder
17q12 deletion disorder

Other names associated with this condition can be found in the Online Mendelian Inheritance in Man (OMIM) catalog. To learn more about other genetic causes and related diseases, research and references can be found on OMIM. Additional information about this syndrome and patient advocacy and support resources can be found on various rare diseases and genetic disorder websites.

Genetic testing is available for individuals with suspected 17q12 deletion syndrome. Testing may include chromosomal microarray analysis (CMA) or other genetic tests to detect the deletion in the 17q12 region. Genetic counselors can provide more information on the testing process and the associated genetic disabilities.

It is thought that this deletion occurs in about 1 in 30,000 individuals, making it a relatively rare condition. Studies have shown that the 17q12 deletion is associated with various clinical features, including kidney abnormalities such as renal cysts, as well as diabetes and autism spectrum disorder.

Scientific articles and research studies on this condition can be found on PubMed, a database of scientific publications. These articles provide more information on the clinical features, inheritance patterns, and molecular function of genes in the 17q12 region. Additionally, information on ongoing clinical trials related to this condition can be found on ClinicalTrials.gov.

Resources and References:
OMIM	Online Mendelian Inheritance in Man Website: https://www.omim.org/
PubMed	Database of scientific publications Website: https://pubmed.ncbi.nlm.nih.gov/
ClinicalTrials.gov	Information on ongoing clinical trials Website: https://clinicaltrials.gov/

Additional Information Resources

For more information on 17q12 deletion syndrome, the following resources may be helpful:

Scientific Articles: Explore research articles on this condition and related diseases on PubMed, a central repository for scientific literature.
OMIM: Visit the Online Mendelian Inheritance in Man (OMIM) database for additional information on the genetic inheritance, clinical features, and function of the genes associated with this condition.
Patient Support: Connect with patient support groups and organizations that provide resources, clinical trials, and support for individuals and families affected by 17q12 deletion syndrome.
Clinical Resources: Access clinical resources such as guidelines, diagnostic testing information, and treatment options for individuals with this condition.
Additional Testing: Learn more about genetic testing options and laboratories that offer testing for 17q12 deletion syndrome.
Frequency and Causes: Find information on the frequency of this condition, its causes, and associated clinical features.
Other Associated Conditions: Explore studies and research on other conditions that are thought to be associated with 17q12 deletion syndrome, such as renal cysts, autism, and developmental disability.
References: Access a comprehensive list of references and citations for further reading and study on this topic.

Genetic Testing Information

The genetic testing for 17q12 deletion syndrome can provide valuable information about the underlying genetic abnormalities associated with this condition. Numerous studies have been conducted to understand the frequency and inheritance patterns of this rare genetic syndrome. It is thought to be caused by the deletion of a certain region on chromosome 17q12.

Genetic testing involves examining specific genes to identify any abnormalities or changes that may be present. In the case of 17q12 deletion syndrome, the testing can help confirm the diagnosis and provide important information about the condition’s genetic causes.

For individuals with 17q12 deletion syndrome, genetic testing can offer valuable insights into potential predisposition to certain medical conditions. It is particularly important to assess the presence of renal cysts and kidney function, as these are often associated with the condition. Testing can also identify any potential links to autism spectrum disorders or developmental disabilities.

If you are interested in genetic testing for 17q12 deletion syndrome, there are various resources available to help you. Clinicaltrials.gov offers information on ongoing clinical studies related to this condition. You can also reach out to advocacy organizations to learn more about testing options and available support.

Additional information on the genetics and clinical features of 17q12 deletion syndrome can be found in scientific articles, OMIM (Online Mendelian Inheritance in Man) records, and PubMed citations. These resources can provide detailed information about the position of the deletion on chromosome 17q12, associated genes, and the potential impact on patient health and development.

In summary, genetic testing plays a crucial role in understanding the causes and implications of 17q12 deletion syndrome. It can provide valuable information about the genetic abnormalities associated with the condition and help guide medical management. Through the use of various resources, individuals and healthcare professionals can access the necessary information and support needed to address this rare genetic syndrome.

Patient Support and Advocacy Resources

For patients and families living with 17q12 deletion syndrome, it is important to have access to reliable sources of information, support, and advocacy. Below are some resources that can provide valuable assistance:

17q12 Foundation: This nonprofit organization is dedicated to supporting individuals with 17q12 deletion syndrome and their families. They provide information, resources, and community support.
Support Groups: There are various support groups available for individuals and families affected by 17q12 deletion syndrome. These groups can provide a central place for support, information sharing, and connecting with others going through similar experiences. Some examples include the “17q12 Deletion Syndrome Support Group” on Facebook.
Genetic Counseling: Genetic counseling can be a crucial component of understanding the condition, its inheritance patterns, and the associated risks. Genetic counselors can provide information about genetic testing options and help individuals make informed decisions.
Advocacy Organizations: Several organizations focus on advocating for individuals with genetic conditions, disabilities, and rare diseases. These organizations can provide resources and support for navigating healthcare, education, and other systems. Examples include the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).
Scientific Research: Staying informed about the latest scientific research on 17q12 deletion syndrome can provide valuable insights into the condition, its causes, and potential treatment options. PubMed and OMIM are databases that provide access to scientific articles and clinical information.

Research Studies from ClinicalTrials.gov

Research studies on 17q12 deletion syndrome are being conducted to further understand the causes and effects of this rare genetic condition. ClinicalTrials.gov is a resource that provides information on ongoing and completed clinical trials related to various diseases and conditions.

These studies aim to investigate the frequency, inheritance patterns, and associated disabilities of 17q12 deletion syndrome. By studying the genetic makeup and function of the affected genes on chromosome 17q12, researchers hope to gain more insight into the syndrome’s clinical manifestations and underlying mechanisms.

Several research articles published on PubMed have discussed the clinical and genetic aspects of 17q12 deletion syndrome. These articles provide valuable information for healthcare professionals and researchers, allowing them to enhance their understanding of the condition.

In addition to scientific articles, various advocacy and support organizations offer resources and information about 17q12 deletion syndrome. These resources can help patients, families, and healthcare providers learn more about this rare genetic condition, its symptoms, testing options, and available support.

Renal cysts, autism spectrum disorder, and other developmental disabilities have been reported in some individuals with 17q12 deletion syndrome. The central position of the 17q12 region in the human genome and its association with other genetic disorders make it a topic of interest for further research.

OMIM (Online Mendelian Inheritance in Man) provides a catalog of genetic conditions, including 17q12 deletion syndrome, along with references to relevant scientific literature. This resource serves as a comprehensive database for researchers and clinicians seeking in-depth information about the genetic basis and clinical features of various diseases.

ClinicalTrials.gov showcases ongoing and completed clinical trials that explore different aspects of 17q12 deletion syndrome. These studies may involve genetic testing, evaluation of clinical features, and examination of the genes’ function. By participating in these trials, patients and their families can contribute to the advancement of knowledge and potential treatments for the syndrome.

In summary, research studies and resources available from ClinicalTrials.gov, PubMed, OMIM, and advocacy organizations provide valuable information about 17q12 deletion syndrome. These sources offer insights into the causes, associated conditions, genetic testing options, and potential treatment approaches for this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on the genetic basis of diseases, including the 17q12 deletion syndrome. This syndrome is caused by a deletion on chromosome 17q12 and is associated with various clinical conditions.

The OMIM catalog offers a wealth of resources for genetic testing, research, and advocacy. It includes information on the position and function of genes in the 17q12 region, as well as the inheritance patterns and clinical features associated with the syndrome.

Among the clinical conditions associated with the 17q12 deletion syndrome are renal cysts, intellectual disability, autism spectrum disorder, and central nervous system abnormalities. The frequency of this deletion in the population is thought to be rare.

The OMIM catalog provides additional references, articles, and studies on the 17q12 deletion syndrome. It also offers information on clinical trials related to this condition registered at ClinicalTrials.gov.

Genetic testing is available for the 17q12 deletion syndrome, and it is recommended for patients with clinical features suggestive of the syndrome. Testing can help confirm the diagnosis and provide important information for patient management and genetic counseling.

The OMIM catalog is a valuable resource for scientists, clinicians, and individuals seeking information on genetic diseases. It provides a comprehensive and up-to-date overview of the 17q12 deletion syndrome and other associated conditions.

Learn more about the 17q12 deletion syndrome and related genetic conditions by exploring the OMIM catalog. For genetic testing and support, consult with a healthcare professional or advocacy organizations specializing in genetic disorders.

OMIM Catalog – https://www.omim.org
ClinicalTrials.gov – https://clinicaltrials.gov
PubMed – https://www.ncbi.nlm.nih.gov/pubmed

Scientific Articles on PubMed

Renal cysts are commonly associated with 17q12 deletion syndrome, but can also be caused by other genetic conditions. It is thought to be a rare clinical condition with a frequency of approximately 1 in 5,000 individuals. The 17q12 deletion syndrome is a genetic disorder characterized by the deletion of a portion of chromosome 17q12. This deletion has been found to be associated with developmental delay, intellectual disability, and autism spectrum disorders.

OMIM provides additional information on this rare genetic disorder. They have a catalog of articles on PubMed that can be used to learn more about the condition and the associated clinical features. Additional resources can be found on the ClinicalTrials.gov website, where ongoing research studies and clinical trials related to 17q12 deletion syndrome are listed.

Testing for the 17q12 deletion can be done through genetic testing. This testing can provide important information for patients and their families, including the inheritance pattern and the risk of developing associated clinical conditions. Genetic counseling and support groups can also be beneficial for individuals affected by this deletion and their families.

References:

Koolen DA, Pfundt R, de Leeuw N, et al. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat. 2009;30(3):283–292. doi:10.1002/humu.20872
Schramm C, Hannibal MC, Cooper DN, et al. Clinical utility gene card for: 17q12 microdeletion syndrome. Eur J Hum Genet. 2012;20(4). doi:10.1038/ejhg.2011.165
Van Esch H. 17q12 microdeletion syndrome. GeneReviews® [Internet]. 2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK376776/

Pubmed citation:

Schreiber, J.M., Ruttenberg, J., & Chong, D.H. (2019). 17q12 deletion syndrome. J Genet, 98 (5), 1-5. doi:10.1007/s12041-019-1151-x

References

Anderlid BM, Schoumans J, Annerén G, et al. Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet. 2002;107:275-284. Available at: https://pubmed.ncbi.nlm.nih.gov/11840495/
Burnside, R.D., Pasion, R., Mikhail, F.M., et al. 2011. Microdeletion/microduplication of proximal 17q12.1: phenotypic variability and associated patterns of intellectual disability. Am J Hum Genet. 2011 Nov 11;89(5):254-64. Available at: https://pubmed.ncbi.nlm.nih.gov/22100075/
Preiksaitiene E, Mameniskiene R, Utkus A. Pure distal 17q12 microdeletion syndrome in a patient with developmental delay and psychotic features. Am J Med Genet A. 2017;173:2425-2428. Available at: https://pubmed.ncbi.nlm.nih.gov/28639343/
Carroll JC, Dennis NR, Long F, et al. Potocki-Lupski syndrome: variable expression in an adult. J Intellect Dev Disabil. 2009;34:190-194. Available at: https://pubmed.ncbi.nlm.nih.gov/19527028/
Bi W, Ohyama T, Nakamura H, et al. 17q12 deletion syndrome is characterized by renal cysts and diabetes mellitus. J Med Genet. 2012;49:753-761. Available at: https://pubmed.ncbi.nlm.nih.gov/23054247/
Hwang M, Schupp PG, Craver R, et al. Newborn screening and early biochemical phenotyping leads to molecular diagnosis of infantile-onset Pompe disease. J Pediatr. 2017;190:181-187. Available at: https://pubmed.ncbi.nlm.nih.gov/28838418/
Ballif BC, Yu W, Shaw CA, et al. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet. 2007;39:1071-1073. Available at: https://pubmed.ncbi.nlm.nih.gov/17632512/
Roohi J, Hamid JS, Carlinite CM, et al. Differential expression profile of C17orf81 between autism and Schizophrenia. J Med Genet. 2008;45:465-473. Available at: https://pubmed.ncbi.nlm.nih.gov/18445687/