Your QuestionMy daughter was diagnosed with type 1 diabetes at three years of age. We recently learned that she may have monogenic diabetes. I have never heard if monogenic diabetes. When was monogenic diabetes discovered? Why is genetic testing important in monogenic diabetes? How is genetic for monogenic diabetes done?
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Questions on this page
- What is monogenic diabetes?
- What are the types of monogenic diabetes?
- It monogenic diabetes a new condition?
- Why is genetic testing important in monogenic diabetes?
- Who should be tested for monogenic diabetes?
- How is testing for monogenic diabetes done?
- How is treatment for monogenic diabetes different than for other types of diabetes?
- Who can I contact to learn more about monogenic diabetes?
Some rare forms of diabetes result from mutations in a single gene and are called monogenic . Monogenic forms of diabetes may account for about 1 to 5 percent of all cases of diabetes in young people . In some cases of monogenic diabetes, the gene mutation is inherited; but in others, the gene mutation develops spontaneously . Most mutations in monogenic diabetes reduce the body's ability to produce insulin, a protein produced in the pancreas that is essential for the body to use glucose for energy . As a result, monogenic diabetes can easily be mistaken for type 1 diabetes .
Based on the results of genetic testing, you should discuss with your daughter's physician and/or a genetics professional recommendations about how to proceed.
Some tests that help differentiate monogenic diabetes from type 1 diabetes are simple and relatively inexpensive; parents of children who were diagnosed with type 1 diabetes at an early age should discuss with their physician whether such a test was conducted at the time of diagnosis, as such testing may not have been done.
A correct diagnosis that allows the proper treatment to be selected should lead to better glucose control and improved health in the long term. Testing of other family members may also be indicated to determine whether they are at risk for diabetes .
Most forms of monogenic diabetes are caused by dominant mutations, meaning that the condition can be passed on to children when only one parent is affected. In contrast, if the mutation is a recessive mutation, a disease gene must be inherited from both parents for diabetes to occur. For recessive forms of monogenic diabetes, testing can indicate whether parents or siblings without disease are carriers for recessive genetic conditions that could be inherited by their children .
If you suspect that you or a member of your family may have a monogenic form of diabetes, you should seek help from your health care professional or a genetic counselor. These healthcare professionals, who are familiar with your medical and family history, can determine whether genetic testing is appropriate, select the genetic tests that should be performed, and provide information about the basic principles of genetics, genetic testing options, and confidentiality issues. They also can review the test results and management options with you .
More information about the laboratories that conduct testing for monogenic diabetes can be found at the following link: http://www.monogenicdiabetes.org/howcan.html
You can learn about additional laboratories which offer testing by visiting GeneTests. By providing current, authoritative information on genetic testing and its use in diagnosis, management, and genetic counseling, GeneTests promotes the appropriate use of genetic services in patient care and personal decision making. To access information about testing for monogenic types of diabetes, visit the GeneTests home page (http://www.genetests.org/) and click on the "Laboratory Directory" icon. Enter "diabetes" in the search box and then scroll to the entries for transient neonatal diabetes mellitus, maturity-onset diabetes of the young, and/or permanent neonatal diabetes mellitus. As mentioned above, a genetic professional or other healthcare provider can help you to navigate through the various testing options to determine which would be most appropriate for your family.
People with monogenic forms of diabetes still need to check their blood sugar levels, however, they may not need to check as often as a person with type 1 diabetes .
National Diabetes Information Clearinghouse (NDIC)
1 Information Way
Bethesda, MD 20892-3560
Toll free: 800-860-8747
E-mail form: http://diabetes.niddk.nih.gov/about/contact.htm
Web site: http://diabetes.niddk.nih.gov/
- Monogenic Forms of Diabetes Mellitus: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young. National Diabetes Information Clearinghouse (NDIC). March 2007; http://diabetes.niddk.nih.gov/dm/pubs/mody/. Accessed 8/14/2008.
- What is Monogenic Diabetes? . The University of Chicago Kovler Diabetes Center. http://www.monogenicdiabetes.org/what-is-monogenic-diabetes. Accessed 9/23/2011.
- Rinki Murphy, Sian Ellard, Andrew T. Hattersley. Nature Clinical Practice Endocrinology & Metabolism. February 26, 2008; http://www.medscape.com/viewarticle/570553. Accessed 5/27/2016.
- Andrew Hattersley, Jan Bruining, Julian Shield, Pal Njolstad. The diagnosis and management of monogenic diabetes in children . DiabetesGenes.org. http://www.projects.ex.ac.uk/diabetesgenes/Monogenic%20diabetes%20ISPAD%20guidelines.doc. Accessed 8/14/2008.
- Who Should Be Tested?. The University of Chicago Kovler Diabetes Center. http://www.monogenicdiabetes.org/who-should-be-tested. Accessed 9/23/2011.
- How Can I Be Tested?. The University of Chicago Kovler Diabetes Center. http://www.monogenicdiabetes.org/how-can-i-be-tested. Accessed 9/23/2011.
- Treatment. The University of Chicago Kovler Diabetes Center. http://www.monogenicdiabetes.org/treatment. Accessed 9/23/2011.
- Rubio-Cabezas O, Hattersley AT, Njølstad PR, Mlynarski W, Ellard S, White N, Chi DV, Craig ME. ISPAD Clinical Practice Consensus Guidelines 2014 Compendium The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 2014; 15(Suppl.20):47-64. http://c.ymcdn.com/sites/www.ispad.org/resource/resmgr/Docs/CPCG_2014_CHAP_4.pdf.
- Thomas CC, Philipson LH. Update on diabetes classification.. Med Clin North Am. Jan 2015; 99(1):1-16. http://www.ncbi.nlm.nih.gov/pubmed/25456640.
- Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young. National Diabetes Information Clearinghouse (NDIC). 2007; http://diabetes.niddk.nih.gov/dm/pubs/mody/. Accessed 1/26/2010.