ArticleActa diabetologica2016
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.
Article in Acta diabetologica, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 80 citations in OpenAlex.
- A worldwide perspective on clinical characteristics and treatment of youth with monogenic diabetes in the SWEET registry.Journal of the Endocrine Society · 2026Article
- Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins).Orphanet journal of rare diseases · 2026Review
- Low prevalence of GCK gene mutations in Chinese patients with gestational diabetes mellitus.Clinics (Sao Paulo, Brazil) · 2026Article
- 2. Diagnosis and Classification of Diabetes: Standards of Care in Diabetes-2026.Diabetes care · 2026Review
- Prediction of maturity-onset diabetes of the young subtypes using machine learning.Frontiers in digital health · 2026Article
- Genetic variants and characterization of MODY in a single, large pediatric referral center.Journal of clinical & translational endocrinology · 2025Article
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- 2. Diagnosis and Classification of Diabetes: Standards of Care in Diabetes-2025.Diabetes care · 2025Review
- Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach.Journal of diabetes research · 2025Article
- Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Management of Rare Types of Diabetes.International journal of molecular sciences · 2024Review
- 2. Diagnosis and Classification of Diabetes: Standards of Care in Diabetes-2024.Diabetes care · 2024Review
- Current views on etiology, diagnosis, epidemiology and gene therapy of maturity onset diabetes in the young.Frontiers in endocrinology · 2024Review
- Partial GCK gene deletion mutations causing maturity-onset diabetes of the young.Acta diabetologica · 2024Review
- Clinical screening for GCK-MODY in 2,989 patients from the Brazilian Monogenic Diabetes Study Group (BRASMOD) and the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG).Archives of endocrinology and metabolism · 2024Article
- Insulin Secretion Defect in Children and Adolescents with Obesity: Clinical and Molecular Genetic Characterization.Journal of diabetes research · 2024Article
- A1C: Episode 1.Clinical diabetes : a publication of the American Diabetes Association · 2024Article
- The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.Communications medicine · 2023Article
- Glucokinase maturity-onset diabetes of the young as a mimicker of stress hyperglycemia: a case report.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- 2. Classification and Diagnosis of Diabetes: Standards of Care in Diabetes-2023.Diabetes care · 2023 · on this mapReview
- The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study.International journal of molecular sciences · 2022Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
aimsGCK-MODY leads to mildly elevated blood glucose typically not requiring therapy. It has been described in all ethnicities, but mainly in Caucasian Europeans. Here we describe our US cohort of GCK-MODY.
methodsWe examined the rates of detection of heterozygous mutations in the GCK gene in individuals referred to the US Monogenic Diabetes Registry with a phenotype consistent with GCK-MODY. We also assessed referral patterns, treatment and demography, including ethnicity, of the cohort.
resultsDeleterious heterozygous GCK mutations were found in 54.7 % of Registry probands selected for GCK sequencing for this study. Forty-nine percent were previously unnecessarily treated with glucose-lowering agents, causing hypoglycemia and other adverse effects in some of the subjects. The proportion of probands found to have a GCK mutation through research-based testing was similar across each ethnic group. However, together African-American, Latino and Asian subjects represented only 20.5 % of screened probands and 17.2 % of those with GCK-MODY, despite higher overall diabetes prevalence in these groups.
conclusionsOur data show that a high detection rate of GCK-MODY is possible based on clinical phenotype and that prior to genetic diagnosis, a large percentage are inappropriately treated with glucose-lowering therapies. We also find low minority representation in our Registry, which may be due to disparities in diagnostic diabetes genetic testing and is an area needing further investigation.
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