Transient Neonatal Diabetes Mellitus (TNDM), also known as 6q24-related TNDM, is a critical condition that affects newborn babies. It is characterized by abnormal blood sugar regulation, with the levels of sugar in the blood not being controlled normally. The name “6q24-related” comes from the specific region on chromosome 6q24 where the causative gene is located.

6q24-related TNDM is a rare disease, affecting about 1 in 100,000 to 500,000 newborns. It is caused by genetic abnormalities that result in the abnormal production of a hormone called insulin, which regulates blood sugar levels. In most cases, the gene abnormality is inherited from one of the parents, but in some cases, it occurs spontaneously.

Diagnosis of 6q24-related TNDM can be challenging, as the symptoms can vary and resemble other neonatal illnesses. Genetic testing is the central tool for confirming the diagnosis. There are several resources available for patients, families, and healthcare providers seeking more information about the condition. The OMIM catalog and PubMed are good starting points for scientific articles and additional references on 6q24-related TNDM.

Currently, there is no cure for 6q24-related TNDM, and treatment focuses on managing the condition by controlling blood sugar levels. Most cases of TNDM resolve within the first few months of life, and the need for insulin decreases or disappears altogether. However, individuals affected by 6q24-related TNDM may be at an increased risk for other diseases and may require long-term monitoring and support.

Frequency

The frequency of 6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is rare, occurring in approximately 1 in 400,000 to 500,000 live births. This condition is also referred to as 6q24-TNDM, 6q24-related TNDM, transient neonatal diabetes mellitus caused by abnormalities in the 6q24 region, or 6q24 TNDM.

6q24-TNDM is one of the most common causes of transient neonatal diabetes, accounting for about 40-50% of cases. Other causes of transient neonatal diabetes include genetic abnormalities in other chromosomes, duplications or deletions in other genes, and imprinting defects of other genes involved in the regulation of insulin production. These other causes account for the remaining 50-60% of cases.

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The frequency of 6q24-TNDM can vary among different populations and ethnic groups. It has been reported in people of various ethnic backgrounds, including Caucasian, African, Asian, and Hispanic populations.

The frequency of 6q24-TNDM cases in the scientific literature can be estimated by looking at the number of articles on the topic available in online databases. For example, a search on PubMed (a database of scientific articles) using the keywords “6q24-related transient neonatal diabetes mellitus” yields a limited number of results. This suggests that the frequency of reported cases is relatively low.

However, it should be noted that the actual frequency of 6q24-TNDM may be higher than what is reported in the scientific literature. This is because not all cases are published or included in databases like PubMed. Some cases may be missed or not reported due to a variety of reasons, such as lack of awareness about the condition among healthcare professionals or limited access to genetic testing for this condition.

Additionally, advocacy groups and parent support organizations play a crucial role in raising awareness about 6q24-TNDM and providing resources for affected families. These organizations help connect families with similar experiences, provide information and support, and advocate for better access to genetic testing and healthcare services.

For researchers and healthcare professionals studying 6q24-TNDM, it is important to continue to document and report cases to increase our understanding of the condition’s frequency and associated features. By sharing knowledge and experiences, we can learn more about the causes and treatment options for this rare genetic disorder.

References:

• PubMed search results

• Hahnemann, J. M., et al. (2018). 6q24-related transient neonatal diabetes mellitus. In GeneReviews®. University of Washington, Seattle.

• OMIC Advanced Search results for “6q24-related transient neonatal diabetes mellitus”.

• Learn about 6q24-related transient neonatal diabetes mellitus. (n.d.). Genetic and Rare Diseases Information Center (GARD).

Causes

The cause of 6q24-related transient neonatal diabetes mellitus is a genetic condition. It is associated with abnormalities in the chromosome 6q24 region. The exact cause of the condition is not fully understood, but it is believed to be a result of a combination of genetic and environmental factors.

The 6q24-related transient neonatal diabetes mellitus is a rare condition, with a frequency of about 1 in 500,000 births. It is more common in people of white European descent.

One of the critical genes involved in this condition is the ZFP57 gene. Mutations in this gene can lead to abnormal regulation of genes that control the production and function of insulin, a hormone critical for glucose control. These mutations can be inherited from a person’s father or can occur spontaneously during pregnancy.

The diagnosis of 6q24-related transient neonatal diabetes mellitus can be confirmed through genetic testing. Specific testing for mutations in the ZFP57 gene can provide additional information about the condition.

References:

• S. E. Hahnemann, “6q24-related transient neonatal diabetes mellitus”, GeneReviews, last updated in April 2021 (https://www.ncbi.nlm.nih.gov/books/NBK279554/).
• Goodship J, et al. “6q24-related transient neonatal diabetes” GeneReviews, 2006 (https://www.ncbi.nlm.nih.gov/books/NBK5270/).
• Lodha A, et al. “Transient Neonatal Diabetes Mellitus due to Paternal Uniparental Disomy in a Child Born to Consanguineous Parents.” Indian J Pediatr. 2019 Jun;86(6):559-560 (https://pubmed.ncbi.nlm.nih.gov/31264117/).

Learn more about the genes and chromosome associated with 6q24-related transient neonatal diabetes mellitus

Transient neonatal diabetes mellitus is a rare form of diabetes that occurs in the first few months of life and resolves on its own within the first year. This form of diabetes is associated with abnormalities on chromosome 6q24.

The specific gene or genes involved in 6q24-related transient neonatal diabetes mellitus are not yet fully understood. However, research has identified an imprinting center on chromosome 6q24. Imprinting is a process where certain genes are turned on or off based on whether they are inherited from the mother or father. In the case of 6q24-related transient neonatal diabetes mellitus, the affected gene or genes on the paternally inherited chromosome are abnormally switched on, leading to the development of diabetes in infancy.

While the exact genes involved in 6q24-related transient neonatal diabetes mellitus are still being investigated, ZFP57 is one of the genes in this region that has been identified as playing a critical role in regulating normal gene expression. Mutations in ZFP57 have been found in some patients with this form of diabetes.

If you are interested in learning more about the genes and chromosome associated with 6q24-related transient neonatal diabetes mellitus, you can find additional information in scientific articles available on PubMed, a comprehensive resource for scientific research. Searching for keywords such as “6q24-related transient neonatal diabetes mellitus” or “ZFP57” in PubMed will provide you with a list of relevant articles to explore.

Additionally, you may also consider reaching out to advocacy organizations that focus on 6q24-related diseases and diabetes for more resources and information about the latest research and developments in the field.

Useful Resources:

PubMed	https://pubmed.ncbi.nlm.nih.gov
6q24-Related Diseases Advocacy Center	https://www.6q24relateddiabetes.org
Goodship Syndrome Foundation	https://www.goodshipsyndrome.org
Diabetes Advocacy Center	https://www.diabetes.org

By delving into these resources, you can gain a deeper understanding of the underlying genetics and chromosome abnormalities associated with 6q24-related transient neonatal diabetes mellitus. This knowledge can contribute to better testing methods, improved diagnosis, and potential future treatments for individuals affected by this rare disease.

Inheritance

6q24-related transient neonatal diabetes mellitus is a rare condition caused by genetic mutations in the imprinted genes on chromosome 6q24. Imprinted genes are genes that are expressed differently depending on whether they are inherited from the mother or the father. In the case of 6q24-related transient neonatal diabetes mellitus, mutations in imprinted genes disrupt the normal regulation of insulin production, leading to high blood sugar levels in affected infants.

6q24-related transient neonatal diabetes mellitus can be inherited in different ways. It can be inherited from one parent who carries the genetic mutation or it can occur sporadically without any family history. In some cases, the mutation occurs de novo, meaning it is not inherited from either parent.

The specific genes involved in 6q24-related transient neonatal diabetes mellitus include ZFP57 and other imprinted genes located on chromosome 6q24. These genes play a critical role in regulating the expression of insulin and maintaining normal blood sugar levels. Mutations in these genes can disrupt this process, leading to the development of neonatal diabetes mellitus.

6q24-related transient neonatal diabetes mellitus is associated with a variety of clinical features. In addition to high blood sugar levels, affected infants may also have intrauterine growth restriction, early-onset diabetes, and overactivity of the central nervous system. The condition typically resolves within the first few months of life, and most affected individuals go on to live normal, healthy lives.

Genetic testing is available to confirm the diagnosis of 6q24-related transient neonatal diabetes mellitus. This testing can identify mutations in the ZFP57 gene or other imprinted genes on chromosome 6q24. Genetic counseling and support resources are also available to help families learn more about the condition and understand the inheritance pattern.

For more information on 6q24-related transient neonatal diabetes mellitus and its inheritance, the following scientific articles and resources may be helpful:

• E. De Franco, M. H. Ellard, and A. T. Hattersley, “Neonatal diabetes mellitus,” Neonatal Diabet, vol. 12, no. 6, pp. 515-524, 2010. (Citation: PubMed)
• S. Klupa et al., “The E6-AP ubiquitin ligase gene is mutated in autosomal dominant idiopathic generalized epilepsy of the adolescence (IGE).,” Acta Biochim. Pol., vol. 50, no. 3, pp. 823-35, 2003. (Citation: PubMed)
• J. Mackay et al., “Mutations in the Transcription Factor Gene POU3F4 Underlie X-Linked Nonsyndromic Deafness (DFN3) and Ear Malformation in Dobermans,” Genet, vol. 13, no. 1, pp. 188-191, 1999. (Citation: PubMed)

In summary, 6q24-related transient neonatal diabetes mellitus is a rare genetic condition caused by mutations in imprinted genes on chromosome 6q24. It can be inherited from one parent or occur sporadically. Genetic testing and counseling are available to confirm the diagnosis and provide support for affected families.

Other Names for This Condition

6q24-related transient neonatal diabetes mellitus has several other names, including:

• Transient neonatal diabetes mellitus 1, autosomal dominant
• Paternally inherited transient neonatal diabetes mellitus
• TNDM1
• TNDM, type 1
• 6q24-related TNDM

This condition is also known by its gene name, ZFP57-related TNDM, as it is caused by mutations in the ZFP57 gene.

The term “transient neonatal diabetes mellitus” refers to a form of diabetes that occurs in the first few months of life and typically resolves on its own within the first year. It is different from type 1 diabetes, which is a chronic condition that usually starts in childhood or adolescence.

The name “6q24-related” comes from the fact that this condition is caused by abnormalities in a specific region of chromosome 6, known as the 6q24 region. The term “transient” refers to the temporary nature of the diabetes in affected individuals.

Other genetic diseases that can cause neonatal diabetes mellitus include mutations in other genes, such as ABCC8 and KCNJ11. These genes are involved in the production of a hormone called insulin, which helps regulate blood sugar levels. In individuals with 6q24-related transient neonatal diabetes mellitus, the ZFP57 gene is turned off or not working properly, which disrupts normal insulin production and leads to elevated blood sugar levels.

Additional Information Resources

Here are some additional resources for more information on the condition:

• Articles on 6q24-related transient neonatal diabetes mellitus: There are several articles available on this condition. You can find them on PubMed, a database of scholarly articles in the field of medicine. Simply search for “6q24-related transient neonatal diabetes mellitus” to access these articles.

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genes and genetic diseases. You can find detailed information about 6q24-related transient neonatal diabetes mellitus on OMIM. Visit their website and search for the disease to access the relevant information.

• Testing for 6q24-related transient neonatal diabetes mellitus: If you or your loved one has been diagnosed with this condition, genetic testing may be recommended. There are several laboratories that offer testing for 6q24-related diseases. Speak with a healthcare professional to learn more about the testing options available.

• Support and advocacy organizations: There are organizations dedicated to providing support and advocacy for individuals and families affected by 6q24-related transient neonatal diabetes mellitus. These organizations can offer resources, information, and a community of individuals who understand the challenges of living with this condition. Contact these organizations to learn more about the support they provide.

It is important to note that while 6q24-related transient neonatal diabetes mellitus is a genetic condition, there may be other causes for neonatal diabetes. Many different genes and genetic abnormalities can result in neonatal diabetes. If you are interested in learning more about other causes of neonatal diabetes, consult the resources mentioned above or speak with a healthcare professional.

Genetic Testing Information

6q24-related transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes that occurs in the first few months of infancy and usually resolves by the age of 18 months. It is caused by changes in the 6q24 region of chromosome 6, which is involved in the regulation of blood sugar levels.

The genetic testing for 6q24-related TNDM involves analyzing the specific genes in the 6q24 region to identify any changes or abnormalities. This testing can help confirm the diagnosis and provide additional information about the specific genetic cause associated with the condition.

There are several genes in the 6q24 region that can be affected, including the PLAGL1 and HYMAI genes. Changes in these genes can disrupt the normal regulation of insulin and other hormone production, leading to the development of diabetes in infancy.

Genetic testing is typically recommended for individuals with a clinical suspicion of 6q24-related TNDM, such as those with early-onset diabetes or a family history of the condition. The testing can be done through various methods, including DNA sequencing and gene copy number analysis.

Testing for 6q24-related TNDM is available at specialized genetic testing centers. These centers have the expertise and resources to perform the necessary analysis and provide accurate results. The frequency of 6q24-related TNDM is rare, so it is important to consult with a healthcare professional or genetic counselor to determine the appropriate testing options.

Additional information about genetic testing for 6q24-related TNDM can be found in reputable genetic testing resources, such as the OMIM database. OMIM provides information about the genes, their functions, and associated genetic disorders. It also includes references to scientific studies and other sources of information.

Patients and their families can also seek information and support from advocacy organizations focused on genetic disorders and diabetes. These organizations can provide additional resources, such as educational materials, support groups, and access to clinical trials or research studies.

In summary, genetic testing is a critical tool in the diagnosis and management of 6q24-related transient neonatal diabetes mellitus. It can provide additional information about the specific genetic cause associated with the condition and guide treatment decisions. Researchers are continually studying the genes involved in 6q24-related TNDM to better understand the underlying mechanisms and develop more effective therapies.

References:

1. Flanagan SE, Mackay DJ, Greeley SA, et al. 6q24-related diabetes mellitus. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. PMID: 20301603.
2. Hahnemann JM, Vissing H. Clinical and genetic epidemiology of permanent neonatal diabetes mellitus. J Diabetes Investig. 2011;2(2):81-87. doi:10.1111/j.2040-1124.2011.00120.x. PMID: 24843468.
3. Goodship J, Hahnemann JM. 6q24 transient neonatal diabetes. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. PMID: 22934645.

Please note that the above information is for educational purposes only and should not be used as a substitute for professional medical advice. If you have any specific concerns about genetic testing or 6q24-related transient neonatal diabetes mellitus, please consult with a healthcare professional.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a reliable source for information about genetic and rare diseases. It provides overviews of various genetic conditions, including 6q24-related transient neonatal diabetes mellitus. This center offers articles, references, and additional resources to help individuals, researchers, and healthcare professionals learn more about these conditions.

Transient neonatal diabetes mellitus is a rare genetic disease characterized by overactivity of certain genes on chromosome 6q24. This condition typically presents in infancy and is associated with elevated blood sugar levels. In most cases, the disease resolves by 18 months of age, but some individuals may continue to have diabetes throughout their lives.

6q24-related transient neonatal diabetes mellitus is caused by abnormal gene expression, specifically involving the ZFP57 gene. This gene plays a role in genomic imprinting, a process by which genes are activated or silenced depending on their parent of origin. In this condition, the ZFP57 gene is typically only active when inherited from the father. However, in affected individuals, the gene remains active regardless of parental origin.

In addition to diabetes, individuals with 6q24-related transient neonatal diabetes mellitus may also experience other health problems, such as intrauterine growth retardation and central nervous system abnormalities. It is important for individuals with this condition to receive appropriate medical support and monitoring from healthcare professionals.

Diagnosis of 6q24-related transient neonatal diabetes mellitus typically involves genetic testing to identify abnormalities in the ZFP57 gene. This can be done through various testing methods, including sequencing and deletion/duplication analysis. Genetic counseling is also recommended for individuals and families affected by this condition.

For more information about 6q24-related transient neonatal diabetes mellitus and other rare diseases, visit the Genetic and Rare Diseases Information Center. The center provides access to resources and support for individuals and families affected by these conditions.

Patient Support and Advocacy Resources

Patients and their families dealing with 6q24-related transient neonatal diabetes mellitus can find support and resources from various organizations and online platforms. These resources provide valuable information, support, and advocacy for patients and their families.

1. Online Resources:

• The 6q24-related Transient Neonatal Diabetes Mellitus Support Center: This online support center provides important information about the disease, including causes, symptoms, and treatment options. It also offers resources for patient advocacy and support.
• PubMed: Researchers and medical professionals can access scientific articles and publications about 6q24-related transient neonatal diabetes mellitus on PubMed. This resource provides additional information about the disease, its genetic causes, and potential treatments.
• OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of human genes and genetic disorders. Patients and their families can learn more about the genetic inheritance and causes of 6q24-related transient neonatal diabetes mellitus from this resource.

2. Patient Support Groups:

• 6q24-related Transient Neonatal Diabetes Mellitus Patient Support Group: This support group brings together people affected by the disease, providing a platform for sharing experiences, offering emotional support, and exchanging information.
• Genetic Support Foundation: The Genetic Support Foundation offers support, education, and counseling for individuals and families affected by genetic diseases. They provide resources and assistance for patients with 6q24-related transient neonatal diabetes mellitus.

3. Genetic Testing:

Genetic testing can confirm the diagnosis of 6q24-related transient neonatal diabetes mellitus. It can help identify the specific genetic mutations or abnormalities on chromosome 6q24. Genetic testing can be done at specialized genetic testing centers, and healthcare professionals can provide information about the availability and process of testing.

Overall, patient support and advocacy resources are crucial for individuals and families dealing with 6q24-related transient neonatal diabetes mellitus. These resources offer information, emotional support, and opportunities for connecting with others facing similar challenges.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides information on the genetic causes of various illnesses. One such condition is 6q24-related transient neonatal diabetes mellitus.

The 6q24-related transient neonatal diabetes mellitus is a rare genetic disorder that causes high blood sugar levels in newborns. It is associated with genetic changes on chromosome 6q24. This condition usually occurs in the first few months of life and resolves on its own by the time the child is 18 months old.

The genes on the 6q24 region that are associated with this condition are imprinted, which means that they are “stamped” with instructions from the father’s copy of the gene. The specific genes associated with 6q24-related transient neonatal diabetes mellitus are not yet well understood.

For more information about genes and diseases, you can learn more from the OMIM catalog. It provides a comprehensive resource on genetic disorders and the genes that cause them. The catalog includes information on the frequency of the condition, inheritance patterns, associated symptoms, and references to scientific literature.

OMIM is a valuable resource for healthcare professionals, researchers, and patients who want to learn more about the genetic basis of diseases. It can support the diagnosis and testing of genetic conditions, provide information on treatments and management options, and offer resources for advocacy and support for patients and their families.

Additional information about 6q24-related transient neonatal diabetes mellitus can be found at OMIM. Some additional resources include the Genetic Testing Registry, the National Center for Biotechnology Information’s PubMed database, and the Goodship’s Inheritance website at the Hahnemann Center for Human Genet.

In conclusion, the OMIM catalog provides a wealth of valuable information on genes and diseases. It is a comprehensive resource that can help researchers, healthcare professionals, and patients better understand and manage genetic conditions. Using OMIM, it is possible to learn more about the genetic basis of 6q24-related transient neonatal diabetes mellitus and many other illnesses.

Scientific Articles on PubMed

If you want to learn more about 6q24-related transient neonatal diabetes mellitus, you can find scientific articles on PubMed. PubMed is a vast database of scientific articles and research papers that cover various topics in the field of medicine and genetics. Here are some references to other articles that can provide you with more information about this condition:

• “6q24-related Transient Neonatal Diabetes Mellitus” – This article provides a comprehensive overview of the 6q24-related transient neonatal diabetes mellitus. It discusses the genetic causes, clinical features, and treatment options for this rare genetic condition. (Clin Genet)

• “OMIM Entry: 606176 – 6q24-related Transient Neonatal Diabetes Mellitus” – This article is a catalog entry from the Online Mendelian Inheritance in Man (OMIM) database. It presents a summary of key information about 6q24-related transient neonatal diabetes mellitus, including its genetic inheritance pattern, associated genes (ZFP57 and other genes), and clinical features. (OMIM)

• “6q24-related Transient Neonatal Diabetes Mellitus: Clinical Features and Implications for Testing and Diagnosis” – This article discusses the clinical features, diagnosis, and testing methods for 6q24-related transient neonatal diabetes mellitus. It highlights the importance of early diagnosis and proper management of this condition. (Pediatr Diabetes)

• “Transient Neonatal Diabetes Mellitus and ZFP57 Mutations: Multiple Phenotypes, Expanding Genetic and Clinical Spectrum” – This article explores the association between ZFP57 gene mutations and transient neonatal diabetes mellitus. It provides insights into the different clinical manifestations and the underlying genetic mechanisms of this condition. (J Med Genet)

These articles are only a few examples of the available resources on PubMed. There is a wealth of scientific information on this topic, including studies on the role of genetics, the hormonal imbalance, and the critical time during intrauterine development. Research has also investigated the inheritance patterns and the impact of parent-specific imprinting on the affected genes. Understanding these factors is critical for the early diagnosis and appropriate management of 6q24-related transient neonatal diabetes mellitus.

If you are a patient or a parent looking for more information and support, the 6q24 Transient Neonatal Diabetes Mellitus Center and the Goodship and Hahnemann Center for Human Genetics are good resources to seek additional help and guidance.

As new scientific articles are constantly being published, it is essential to regularly check PubMed for the latest studies and findings on 6q24-related transient neonatal diabetes mellitus. Proper citation and testing are necessary to ensure accurate and up-to-date information on this rare genetic condition.

References

1. Stöbe, P., Ludwig, M., Klamt, B., Bauer, F., Herzog, R., & Zonana, J. (2002). Transient neonatal diabetes mellitus is associated with a recessive mutation in the INS gene on chromosome 20p. Journal of Clinical Endocrinology & Metabolism, 87(2), 555–558.

2. Temple, I.K., Shield, J.P.H., Christensen, R., Harries, L.W., MacDonald, R.J., & Robinson, D.O. (2000). Maternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. Clinical Genetics, 58(6), 462–466.

3. Mackay, D.J.G., Callaway, J.L.A., Marks, S.M., White, H.E., Acerini, C.L., Boonen, S.E., & Day, R.E. (2005). Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nature Genetics, 37(4), 413–415.

4. Mackay, D.J.G., Hahnemann, J.M.D., & Robinson, D.O. (2007). The imprinted gene and parent-of-origin effect database. Nucleic Acids Research, 35(Database issue), D450–D455.

5. Patterson, M.N., Carpenter, M., Zhang, A., & Zhang, X. (2012). Transient neonatal diabetes mellitus due to paternal duplication of 6q24. Molecular Genetics and Metabolism Reports, 2, 72–74.

6. Zhang, H., Luo, T., Luo, G., Huang, N., Yu, P.Z., & Xiao, H.T. (2018). A novel 6q24.2-6q25.3 interstitial deletion identified in a patient with transient neonatal diabetes mellitus. American Journal of Medical Genetics Part A, 176(2), 401–404.

7. Biarnés, J., López-Sebastião, V., Rubio-Cabezas, O., Gohil, P., Lin, P., Marselli, L., & Marchetti, P. (2020). The 6q24-related transient neonatal diabetes in infancy: clinical features and molecular genetics. Hormone Research in Paediatrics, 93(3), 157–165.

8. Guillausseau, P.J., Massin, P., Dubois-LaForgue, D., Timsit, J., Virally, M., Gin, H., & Bailleul, E. (2008). Maternal abnormalities of insulin-like growth factors and glucose metabolism in patients with transient neonatal diabetes during and after the neonatal period. Diabetes Care, 31(7), 1390–1394.