Monogenic Forms of Diabetes
- PMID: 38117925
- Bookshelf ID: NBK597414
Monogenic Forms of Diabetes
Excerpt
Monogenic diabetes is a term used to describe a group of single-gene causes of diabetes. Traditional nomenclature has focused on the types of diabetes known as MODY, defined as maturity-onset diabetes of the young; infantile (or perinatal) onset diabetes, including permanent and transient neonatal diabetes mellitus; and syndromic types. These syndromes include genes associated with insulin resistance, such as the insulin receptor itself. A growing field is also focused on single gene variants that are responsible for multi-autoimmune syndromes that include type 1 diabetes. Altogether, monogenic diabetes may account for up to 3% of all diabetes diagnosed before age 35 years, amounting to an estimated 300,000 cases in the United States. However, a systematic study of incidence and prevalence in the United States has not been done.
Conflict of interest statement
All authors reported no conflicts of interest.
Sections
- Summary
- Introduction
- Monogenic Diabetes
- Neonatal Diabetes Mellitus
- Genetic Defects in Insulin Action: Insulin Receptor and Postreceptor Defects
- Gaps in Monogenic Diabetes Diagnosis
- Clinical Genome Resource (ClinGen) Monogenic Diabetes Expert Panels (MDEP) for Gene and Variant Curation
- Concluding Remarks
- Resources
- List of Abbreviations
- Conversions
- Funding
- Acknowledgment
- Article History
- References
References
-
- Fajans SS, Bell GI, Polonsky KS: Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 345:971–980, 2001 - PubMed
-
- ClinGen: Clinical Genome Resource. Gene-Disease Validity: Curations by Monogenic Diabetes Expert Panel [article online], 2021. Available from https://search.clinicalgenome.org/kb/affiliate/10016. Accessed 2 Feb 2022
-
- Shepherd M, Shields B, Hammersley S, Hudson M, McDonald TJ, Colclough K, Oram RA, Knight B, Hyde C, Cox J, Mallam K, Moudiotis C, Smith R, Fraser B, Robertson S, Greene S, Ellard S, Pearson ER, Hattersley AT: Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes. Diabetes Care 39:1879–1888, 2016 - PMC - PubMed
-
- Pihoker C, Gilliam LK, Ellard S, Dabelea D, Davis C, Dolan LM, Greenbaum CJ, Imperatore G, Lawrence JM, Marcovina SM, Mayer-Davis E, Rodriguez BL, Steck AK, Williams DE, Hattersley AT: Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. J Clin Endocrinol Metab 98:4055–4062, 2013 - PMC - PubMed
Publication types
LinkOut - more resources
Full Text Sources