GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated
Open accessAbstract
Aims GCK-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. Methods We 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. Results Deleterious 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. Conclusions Our 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.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Atypical diabetes is becoming increasingly difficult to precisely define in the absence of a definitive set of tests for either type 1 or type 2 diabetes.
“although admittedly, atypical diabetes is becoming increasingly dif fi cult to precisely de fi ne in the absence of a de fi nitive set of tests for either type of diabetes (158 -160,163 -169)”
From 2. Diagnosis and Classification of Diabetes: <i>Standards of Care in Diabetes—2024</i> (2024) · cites this paper as [159]
The Introduction (page unavailable) says GCK-MODY is misdiagnosed as type 1 or type 2 diabetes, and the Discussion says misdiagnosis is frequent. The paper does not say that atypical diabetes is becoming increasingly difficult to define or that this difficulty stems from a lack of definitive tests for type 1 and type 2 diabetes. (LLM, conf=0.80)
Experimental — accuracy not yet measuredDiabetes occurring under 6 months of age is termed neonatal or congenital diabetes, and about 80-85% of cases can be found to have an underlying monogenic cause.
“Diabetes occurring under 6 months of age is termed neonatal or congenital diabetes, and about 80 -85% of cases can be found to have an underlying monogenic cause (36,157 -160).”
From 2. Diagnosis and Classification of Diabetes: <i>Standards of Care in Diabetes—2024</i> (2024) · cites this paper as [159]
The Discussion addresses genetic testing and underrecognition of GCK-MODY, not the definition or prevalence of monogenic neonatal diabetes. Searches for diabetes before six months and for an 80–85% monogenic cause found no passage in our copy supporting either part of the claim. (LLM, conf=0.76)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
Shields, B. M., Hicks, S., Shepherd, M. H., Colclough, K., Hattersley, A. T., & Ellard, S. (2010) · Diabetologia · doi:10.1007/s00125-010-1799-4 · Cited by 725 · see citing works
Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus
Vionnet, N., Stoffel, M., Takeda, J., Yasuda, K., Bell, G. I., Zouali, H., Lesage, S., Velho, G., Iris, F., Passa, P., et al. (1992) · Nature · doi:10.1038/356721a0 · Cited by 604 · see citing works
Osbak, K. K., Colclough, K., Saint‐Martin, C., Beer, N. L., Bellanné‐Chantelot, C., Ellard, S., & Gloyn, A. L. (2009) · Human Mutation · doi:10.1002/humu.21110 · Cited by 481 · see citing works
Pihoker, C., Gilliam, L. K., Ellard, S., Dabelea, D., Davis, C., Dolan, L. M., Greenbaum, C. J., Imperatore, G., Lawrence, J. M., Marcovina, S. M., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-1279 · Cited by 397 · see citing works
Standards of Medical Care in Diabetes—2015: Summary of Revisions
(2014) · Diabetes Care · doi:10.2337/dc15-s003 · Cited by 382 · see citing works
Steele, A. M., Shields, B. M., Wensley, K. J., Colclough, K., Ellard, S., & Hattersley, A. T. (2014) · JAMA · doi:10.1001/jama.2013.283980 · Cited by 379 · see citing works
Regulation of Pancreatic β-Cell Glucokinase
Matschinsky, F. M. (2002) · Diabetes · doi:10.2337/diabetes.51.2007.s394 · Cited by 346 · see citing works
Shields, B. M., McDonald, T. J., Ellard, S., Campbell, M. J., Hyde, C., & Hattersley, A. T. (2012) · Diabetologia · doi:10.1007/s00125-011-2418-8 · Cited by 338 · see citing works
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
Ellard, S., Allen, H. L., Franco, E. D., Flanagan, S. E., Hysenaj, G., Colclough, K., Houghton, J., Shepherd, M. H., Hattersley, A. T., Weedon, M. N., et al. (2013) · Diabetologia · doi:10.1007/s00125-013-2962-5 · Cited by 307 · see citing works
Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations.
Byrne, M. M., Sturis, J., Clément, K., Vionnet, N., Pueyo, M. E., Stoffel, M., Takeda, J., Passa, P., Cohen, D., & Bell, G. I. (1994) · Journal of Clinical Investigation · doi:10.1172/jci117064 · Cited by 296 · see citing works
Velho, G., Blanché, H., Vaxillaire, M., Bellanné‐Chantelot, C., Pardini, V. C., Timsit, J., Passa, P., Deschamps, I., Robert, J., Weber, I. T., et al. (1997) · Diabetologia · doi:10.1007/s001250050666 · Cited by 264 · see citing works
The Clinical Endocrinology Workforce: Current Status and Future Projections of Supply and Demand
Vigersky, R. A., Fish, L., Hogan, P., Stewart, A., Kutler, S., Ladenson, P. W., McDermott, M., & Hupart, K. H. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-2257 · Cited by 238 · see citing works
Stride, A., Shields, B. M., Gill-Carey, O., Chakera, A. J., Colclough, K., Ellard, S., & Hattersley, A. T. (2013) · Diabetologia · doi:10.1007/s00125-013-3075-x · Cited by 212 · see citing works
Davis, E. A., Cuesta-Muñoz, A. L., Raoul, M., Buettger, C. W., Sweet, I. R., Moates, M., Magnuson, M. A., & Matschinsky, F. M. (1999) · Diabetologia · doi:10.1007/s001250051289 · Cited by 163 · see citing works
Chakera, A. J., Spyer, G., Vincent, N., Ellard, S., Hattersley, A. T., & Dunne, F. (2014) · Diabetes Care · doi:10.2337/dc13-2248 · Cited by 153 · see citing works
Naylor, R. N., John, P. M., Winn, A. N., Carmody, D., Greeley, S. A. W., Philipson, L. H., Bell, G. I., & Huang, E. S. (2013) · Diabetes Care · doi:10.2337/dc13-0410 · Cited by 139 · see citing works
Self-citationSteele, A. M., Wensley, K. J., Ellard, S., Murphy, R., Shepherd, M. H., Colclough, K., Hattersley, A. T., & Shields, B. M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0065326 · Cited by 131 · see citing works
Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:
Lorini, R., Klersy, C., d’Annunzio, G., Massa, O., Minuto, N., Iafusco, D., Bellanné‐Chantelot, C., Frongia, A. P., Toni, S., Meschi, F., et al. (2009) · Diabetes Care · doi:10.2337/dc08-2018 · Cited by 110 · see citing works
Mutations in GCK and HNF‐1α explain the majority of cases with clinical diagnosis of MODY in Spain
Estalella, I., Rica, I., de Nanclares, G. P., Bilbao, J. R., Vazquez, J. A., Pedro, J. I. S., Busturia, M. A., Castaño, L. A., & Spanish MODY Group (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.02921.x · Cited by 108 · see citing works
Alkorta‐Aranburu, G., Carmody, D., Cheng, Y., Nelakuditi, V., Ma, L., Dickens, J. T., Das, S., Greeley, S. A. W., & del Gaudio, D. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.09.007 · Cited by 90 · see citing works
Self-citationSagen, J. V., Odili, S., Bjørkhaug, L., Zelent, D., Buettger, C. W., Kwagh, J., Stanley, C. A., Dahl‐Jørgensen, K., de Beaufort, C. E., Bell, G. I., et al. (2006) · Diabetes · doi:10.2337/db05-1513 · Cited by 85 · see citing works
Bonnefond, A., Philippe, J., Durand, E., Muller, J., Saeed, S., Arslan, M., Martı́nez, R., Graeve, F. D., Dhennin, V., Rabearivelo, I., et al. (2013) · Diabetes Care · doi:10.2337/dc13-0698 · Cited by 82 · see citing works
Who should have genetic testing for maturity‐onset diabetes of the young?
Naylor, R. N., & Philipson, L. H. (2011) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2011.04049.x · Cited by 81 · see citing works
Self-citationEllard, S., Thomas, K., Edghill, E. L., Owens, M., Ambye, L., Cropper, J., Little, J., Strachan, M. W. J., Stride, A., Ersoy, B., et al. (2007) · Diabetologia · doi:10.1007/s00125-007-0798-6 · Cited by 70 · see citing works
Sulfonylurea Treatment Before Genetic Testing in Neonatal Diabetes: Pros and Cons
Carmody, D., Bell, C. D., Hwang, J. L., Dickens, J. T., Sima, D. I., Felipe, D. L., Zimmer, C. A., Davis, A. O., Kotlyarevska, K., Naylor, R. N., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-2494 · Cited by 70 · see citing works
Self-citationBacon, S., Schmid, J., McCarthy, A., Edwards, J., Fleming, A., Kinsley, B., Firth, R. G., Byrne, B., Gavin, C., & Byrne, M. M. (2015) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2015.04.037 · Cited by 54 · see citing works
Pinelli, M., Acquaviva, F., Barbetti, F., Caredda, E., Cocozza, S., Delvecchio, M., Mozzillo, E., Pirozzi, D., Prisco, F., Rabbone, I., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0079933 · Cited by 41 · see citing works
Singh, R., Pearson, E. R., CLARK, P. M. S., & Hattersley, A. T. (2007) · Diabetologia · doi:10.1007/s00125-006-0541-8 · Cited by 37 · see citing works
Schnyder, S., Ellard, S., & Hattersley, A. T. (2005) · Swiss Medical Weekly · doi:10.4414/smw.2005.11030 · Cited by 35 · see citing works
Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia
Gloyn, A. L., van de Bunt, M., STRATTON, I. M., Lonie, L. J., Tucker, L., Ellard, S., & Holman, R. R. (2008) · Diabetologia · doi:10.1007/s00125-008-1188-4 · Cited by 32 · see citing works
Greeley, S. A. W., Naylor, R. N., Cook, L. S., Tucker, S. E., Lipton, R. B., & Philipson, L. H. (2011) · Journal of Diabetes Science and Technology · doi:10.1177/193229681100500409 · Cited by 28 · see citing works
Self-citationAsian MODY: are we missing an important diagnosis?
Porter, J. R., Rangasami, J. J., Ellard, S., Gloyn, A. L., Shields, B. M., Edwards, J., Anderson, J. M., Shaw, N. J., Hattersley, A. T., Frayling, T. M., et al. (2006) · Diabetic Medicine · doi:10.1111/j.1464-5491.2006.01958.x · Cited by 26 · see citing works
Beer, N. L., Osbak, K. K., van de Bunt, M., Tribble, N. D., Steele, A. M., Wensley, K. J., Edghill, E. L., Colcough, K., Barrett, A., Valentínová, L., et al. (2012) · Diabetes Care · doi:10.2337/dc11-2420 · Cited by 21 · see citing works
The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
Steele, A. M., Tribble, N. D., Caswell, R. C., Wensley, K. J., Hattersley, A. T., Gloyn, A. L., & Ellard, S. (2011) · Diabetologia · doi:10.1007/s00125-011-2194-5 · Cited by 20 · see citing works
Negahdar, M., Aukrust, I., Molnes, J., Solheim, M. H., Johansson, B. B., Sagen, J. V., Dahl‐Jørgensen, K., Kulkarni, R., Sövik, O., Flatmark, T., et al. (2013) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2013.08.020 · Cited by 16 · see citing works
Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses
Herman, S., Varga, D., Deissler, H. L., Kreienberg, R., & Deissler, H. (2012) · Genetics and Molecular Biology · doi:10.1590/s1415-47572012005000001 · Cited by 7 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
2. Classification and Diagnosis of Diabetes: <i>Standards of Medical Care in Diabetes—2022</i>
American Diabetes Association Professional Practice Committee (2022) · Diabetes Care · doi:10.2337/dc22-s002 · Cited by 4,792 · see citing works
2. Classification and Diagnosis of Diabetes: <i>Standards of Medical Care in Diabetes—2021</i>
American Diabetes Association (2021) · Diabetes Care · doi:10.2337/dc21-s002 · Cited by 3,116 · see citing works
2. Classification and Diagnosis of Diabetes: Standards of Care in Diabetes—2023
ElSayed, N. A., Aleppo, G., Aroda, V. R., Bannuru, R. R., Brown, F. M., Bruemmer, D., Collins, B. S., Gaglia, J. L., Hilliard, M. E., Isaacs, D. M., et al. (2022) · Diabetes Care · doi:10.2337/dc23-s002 · Cited by 2,652 · see citing works
2. Diagnosis and Classification of Diabetes: <i>Standards of Care in Diabetes—2024</i>
American Diabetes Association Professional Practice Committee, ElSayed, N. A., Aleppo, G., Bannuru, R. R., Bruemmer, D., Collins, B. S., Ekhlaspour, L., Gaglia, J. L., Hilliard, M. E., Johnson, E. L., et al. (2024) · Diabetes Care · doi:10.2337/dc24-s002 · Cited by 2,086 · see citing works
2. Diagnosis and classification of diabetes: standards of care in diabetes-2025
American Diabetes Association Professional Practice Committee, ElSayed, N. A., McCoy, R. G., Aleppo, G., Balapattabi, K., Beverly, E. A., Briggs Early, K., Bruemmer, D., Ebekozien, O., Echouffo-Tcheugui, J. B., et al. (2025) · Diabetes Care · doi:10.2337/dc25-s002 · Cited by 1,393 · see citing works
2. Diagnosis and Classification of Diabetes: Standards of Care in Diabetes—2026
American Diabetes Association Professional Practice Committee for Diabetes*, Bajaj, M., McCoy, R. G., Balapattabi, K., Bannuru, R. R., Bellini, N. J., Bennett, A. K., Beverly, E. A., Briggs Early, K., ChallaSivaKanaka, S., et al. (2026) · Diabetes Care · doi:10.2337/dc26-s002 · Cited by 473 · see citing works
Monogenic diabetes: a gateway to precision medicine in diabetes
Zhang, H., Colclough, K., Gloyn, A. L., & Pollin, T. I. (2021) · Journal of Clinical Investigation · doi:10.1172/jci142244 · Cited by 193 · see citing works
Personalized type 2 diabetes management: an update on recent advances and recommendations
Williams, D. M., Jones, H., & Stephens, J. W. (2022) · Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy · doi:10.2147/dmso.s331654 · Cited by 121 · see citing works
Riddle, M. C., Philipson, L. H., Rich, S. S., Carlsson, A., Franks, P. W., Greeley, S. A. W., Nolan, J. J., Pearson, E. R., Zeitler, P. S., & Hattersley, A. T. (2020) · Diabetes Care · doi:10.2337/dci20-0065 · Cited by 117 · see citing works
Self-citationstudy, F. T. U., Shepherd, M. H., Shields, B. M., Hudson, M., Pearson, E. R., Hyde, C., Ellard, S., Hattersley, A. T., & Patel, K. (2018) · Diabetologia · doi:10.1007/s00125-018-4728-6 · Cited by 109 · see citing works
Delvecchio, M., Mozzillo, E., Salzano, G., Iafusco, D., Frontino, G., Patera, P. I., Rabbone, I., Cherubini, V., Grasso, V., Tinto, N., et al. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-2490 · Cited by 109 · see citing works
Mirshahi, U. L., Colclough, K., Wright, C. F., Wood, A. R., Beaumont, R. N., Tyrrell, J., Laver, T. W., Stahl, R. C., Golden, A. M., Goehringer, J., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.09.014 · Cited by 92 · see citing works
Personalized Type 2 Diabetes Management: An Update on Recent Advances and Recommendations
Williams, D. M., Jones, H. F., & Stephens, J. W. (2022) · Dove Medical Press (Taylor and Francis Group) · Cited by 99 · see citing works
Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options
Sanyoura, M., Philipson, L. H., & Naylor, R. N. (2018) · Current Diabetes Reports · doi:10.1007/s11892-018-1024-2 · Cited by 95 · see citing works
Self-citationPrecision diabetes: Lessons learned from maturity‐onset diabetes of the young (MODY)
Tosur, M., & Philipson, L. H. (2022) · Journal of Diabetes Investigation · doi:10.1111/jdi.13860 · Cited by 83 · see citing works
Self-citationDickens, L. T., Letourneau, L. R., Sanyoura, M., Greeley, S. A. W., Philipson, L. H., & Naylor, R. N. (2018) · Acta Diabetologica · doi:10.1007/s00592-018-1267-z · Cited by 71 · see citing works
Self-citationThe use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion
Murphy, R., Colclough, K., Pollin, T. I., Iklé, J. M., Svalastoga, P., Maloney, K. A., Saint‐Martin, C., Molnes, J., PMDI, A., Tobias, D. K., et al. (2023) · Communications Medicine · doi:10.1038/s43856-023-00369-8 · Cited by 53 · see citing works
Self-citationMisra, S., Aguilar-Salinas, C. A., Chikowore, T., Konradsen, F., Ronald, C. W., Mbau, L. K., Mohan, V., Morton, R. W., Nyirenda, M., Tapela, N. M., et al. (2023) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(23)00164-x · Cited by 39 · see citing works
Not quite type 1 or type 2, what now? Review of monogenic, mitochondrial, and syndromic diabetes
Yeung, R. O., Hannah‐Shmouni, F., Niederhoffer, K. Y., & Walker, M. A. (2018) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-018-9446-3 · Cited by 38 · see citing works
GoodSmith, M. S., Skandari, M. R., Huang, E. S., & Naylor, R. N. (2019) · Diabetes Care · doi:10.2337/dc19-0486 · Cited by 36 · see citing works
Self-citationChallenges in the diagnosis of diabetes type in pediatrics
Siller, A. F., Tosur, M., Relan, S., Astudillo, M., McKay, S. V., Dabelea, D., & REDONDO, M. J. (2020) · Pediatric Diabetes · doi:10.1111/pedi.13070 · Cited by 33 · see citing works
Timsit, J., Ciangura, C., Dubois‐Laforgue, D., Saint‐Martin, C., & Bellanné‐Chantelot, C. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.802423 · Cited by 33 · see citing works
Alkandari, H., Al‐Abdulrazzaq, D., Davidsson, L., Nizam, R., Jacob, S. P., Melhem, M., John, S. E., & Al‐Mulla, F. (2021) · Scientific Reports · doi:10.1038/s41598-021-95552-z · Cited by 27 · see citing works
Monogenic diabetes: the impact of making the right diagnosis
Harris, A. G., Letourneau, L. R., & Greeley, S. A. W. (2018) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000643 · Cited by 25 · see citing works
Self-citationMonogenic Forms of Diabetes Mellitus
Gaál, Z., & Balogh, I. (2019) · Experientia supplementum · doi:10.1007/978-3-030-25905-1_18 · Cited by 25 · see citing works
GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants
Sanyoura, M., Letourneau, L., Knight Johnson, A. E., del Gaudio, D., Greeley, S. A. W., Philipson, L. H., & Naylor, R. N. (2019) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2019.04.017 · Cited by 23 · see citing works
Self-citationBacon, S., Kyithar, M. P., Condron, E. M., Vizzard, N., Burke, M., & Byrne, M. M. (2016) · Acta Diabetologica · doi:10.1007/s00592-016-0890-9 · Cited by 22 · see citing works
Insights into pathogenesis of five novel GCK mutations identified in Chinese MODY patients
Liu, L., Liu, Y., Ge, X., Liu, X., Chen, C., Wang, Y., Li, M., Yin, J., Zhang, J., Chen, Y., et al. (2018) · Metabolism · doi:10.1016/j.metabol.2018.09.004 · Cited by 22 · see citing works
Dzhemileva, L. U., Захарова, Е. Н., Goncharenko, A. O., Vorontsova, M. V., Roumiantsev, S. A., Mokrysheva, N. G., Loguinova, M. Y., & Chekhonin, V. P. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1497298 · Cited by 24 · see citing works
Economics of Genetic Testing for Diabetes
Naylor, R. N. (2019) · Current Diabetes Reports · doi:10.1007/s11892-019-1140-7 · Cited by 21 · see citing works
Self-citationCopy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young
Berberich, A. J., Huot, C., Cao, H., McIntyre, A. D., Robinson, J. F., Wang, J., & Hegele, R. A. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-02574 · Cited by 18 · see citing works
Ping, F., Wang, Z., & Xiao, X. (2019) · Journal of Diabetes Investigation · doi:10.1111/jdi.13072 · Cited by 17 · see citing works
Aarthy, R., Aston‐Mourney, K., Amutha, A., Mikocka‐Walus, A. A., Anjana, R. M., Ranjit Unnikrishnan, I., Jebarani, S., Venkatesan, U., Gopi, S., Radha, V., et al. (2023) · Primary care diabetes · doi:10.1016/j.pcd.2023.04.004 · Cited by 16 · see citing works
Komazec, J., Zdravković, V., Sajić, S., Ješić, M. D., Andjelković, M., Pavlović, S., & Ugrin, M. (2019) · Endokrynologia Polska · doi:10.5603/ep.a2018.0064 · Cited by 16 · see citing works
Breidbart, E., Deng, L., Lanzano, P., Fan, X., Guo, J., Leibel, R. L., LeDuc, C. A., & Chung, W. K. (2021) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0501 · Cited by 16 · see citing works
Monogenic diabetes: An evidence-based clinical approach
Bhattacharya, S., Fernandez, C. J., Kamrul-Hasan, A. B. M., & Pappachan, J. M. (2025) · World Journal of Diabetes · doi:10.4239/wjd.v16.i5.104787 · Cited by 15 · see citing works
MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
Tarantino, R. M., Abreu, G. D. M., Fonseca, A. C. P. D., Kupfer, R., Pereira, M. D. F. C., Campos, M., Zajdenverg, L., & Rodacki, M. (2019) · Archives of Endocrinology and Metabolism · doi:10.20945/2359-3997000000173 · Cited by 15 · see citing works
Elashi, A. A., Toor, S. M., Diboun, I., Al-Sarraj, Y. A., Taheri, S., Suhre, K., Abou‐Samra, A., & Albagha, O. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms24010130 · Cited by 15 · see citing works
Screening for monogenic diabetes in primary care
Baldacchino, I., Pace, N. P., & Vassallo, J. (2019) · Primary care diabetes · doi:10.1016/j.pcd.2019.06.001 · Cited by 12 · see citing works
IAFUSCO, F., Maione, G., Mazzaccara, C., Candia, F. D., Mozzillo, E., Franzese, A., & Tinto, N. (2021) · Diagnostics · doi:10.3390/diagnostics11071164 · Cited by 11 · see citing works
Using Personalized Medicine in the Management of Diabetes Mellitus
Elk, N., & Iwuchukwu, O. F. (2017) · Pharmacotherapy The Journal of Human Pharmacology and Drug Therapy · doi:10.1002/phar.1976 · Cited by 10 · see citing works
Sequencing Cell-free Fetal DNA in Pregnant Women With GCK-MODY
Kwak, S. H., Powe, C. E., Jang, S. S., Callahan, M. J., Bernstein, S. N., Lee, S. M., Kang, S., Park, K. S., Jang, H. C., Florez, J. C., et al. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab265 · Cited by 10 · see citing works
Hypoglycemic Response to Dorzagliatin in a Patient With GCK-MODY
Zhao, Y., Ma, Y., Ba, T., Han, X., Ren, Q., & Ji, L. (2024) · Diabetes Care · doi:10.2337/dc23-2417 · Cited by 9 · see citing works
Ding, Y., Li, N., Lou, D. W., Zhang, Q., Chang, G., Li, J., Li, X., Li, Q., Huang, X., Wang, J., et al. (2020) · Journal of Diabetes Investigation · doi:10.1111/jdi.13322 · Cited by 9 · see citing works
Treatment of Diabetes Mellitus in Children and Adolescents
Yau, M., & Sperling, M. A. (2021) · Cited by 8 · see citing works
#DiabetesOnAPlate: the everyday deployment and contestation of diabetes stigma in an online setting
Blackwood, L. M., Gavin, J., Arnott, E., Barnett, J. C., Dack, C., & Johansen, J. (2022) · Critical Public Health · doi:10.1080/09581596.2022.2077548 · Cited by 8 · see citing works
Enders-Seidlitz, H., Raile, K., Gong, M., Galler, A., Kuehnen, P., & Wiegand, S. (2024) · Journal of Diabetes Research · doi:10.1155/2024/5558634 · Cited by 8 · see citing works
GCK‐MODY in pregnancy: A pregnant woman with diabetes and a small‐for‐gestational‐age fetus
Yau, T., Yu, S. C. Y., Cheng, J. Y., Kwok, J. S.-S., & Ronald, C. W. (2022) · Clinical Case Reports · doi:10.1002/ccr3.6629 · Cited by 8 · see citing works
Deciphering the Relationship between Obesity and Various Diseases from a Network Perspective
Chen, L., Zhang, Y., Li, J., Wang, S., Zhang, Y., Huang, T., & Cai, Y. (2017) · Genes · doi:10.3390/genes8120392 · Cited by 8 · see citing works
Serbis, A., Kantza, E., Siomou, E. C., Galli‐Τsinopoulou, A., Kanaka‐Gantenbein, C., & Tigas, S. K. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms251910501 · Cited by 7 · see citing works
Maloney, K. A., Mizerik, E. A., King, R. H., McGinnis, E. M., Perkowitz, S., Diamonstein, C. J., Schmanski, A. A., Saliganan, S., Shipper, A. G., Udler, M. S., et al. (2023) · Journal of Genetic Counseling · doi:10.1002/jgc4.1744 · Cited by 7 · see citing works
Wang, Z., Ping, F., Zhang, Q., Zheng, J., Zhang, H., Yu, M., Li, W., & Xiao, X. (2017) · Journal of Diabetes Investigation · doi:10.1111/jdi.12664 · Cited by 7 · see citing works
Lizarzaburu-Robles, J. C., de la Torre, J. C. G., Castro‐Mujica, M. D. C., Vento, F., Villanes, S., Salsavilca, E., & Guerin, C. K. (2020) · Clinical Diabetes and Endocrinology · doi:10.1186/s40842-019-0091-x · Cited by 7 · see citing works
A Systematic Review of the use of Precision Diagnostics in Monogenic DiabetesPreprint
Murphy, R., Colclough, K., Pollin, T. I., Iklé, J. M., Svalastoga, P., Maloney, K. A., Saint‐Martin, C., Molnes, J., Initiative, A. P. M. D., Misra, S., et al. (2023) · medRxiv · doi:10.1101/2023.04.15.23288269 · Cited by 7 · see citing works
Aung, N. L. (2023) · Clinical Diabetes · doi:10.2337/cd23-0084 · Cited by 6 · see citing works
Urbanová, J., Brunerová, L., & Brož, J. (2019) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2019.107914 · Cited by 6 · see citing works
Fornari, E., Barbetti, F., Iafusco, D., Lombardo, F., GIUDICE, E. M. D., Rabbone, I., & Mozzillo, E. (2021) · Minerva Pediatrics · doi:10.23736/s2724-5276.21.06530-7 · Cited by 5 · see citing works
Genetic variants and characterization of MODY in a single, large pediatric referral center
Deng, L., SHAH, A. S., & Krishnamurthy, M. (2025) · Journal of Clinical & Translational Endocrinology · doi:10.1016/j.jcte.2025.100398 · Cited by 4 · see citing works
Partial GCK gene deletion mutations causing maturity-onset diabetes of the young
Yu, R., Zhang, H., & Xiao, X. (2023) · Acta Diabetologica · doi:10.1007/s00592-023-02173-1 · Cited by 4 · see citing works
Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young
Li, J., Shu, M., Wang, X., Deng, A., Wen, C., Wang, J., Jin, S., & Zhang, H. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.700342 · Cited by 4 · see citing works
Peixoto-Barbosa, R., Calliari, L. E., Crispim, F., Moisés, R. S., Dib, S. A., Reis, A. F., & Giuffrida, F. M. A. (2024) · Archives of Endocrinology and Metabolism · doi:10.20945/2359-4292-2023-0314 · Cited by 3 · see citing works
Nakasato, Y., Terashita, S., Kusabiraki, S., Horie, S., Wada, T., Nakabayashi, M., Nakamura, M., & Yorifuji, T. (2022) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.2022-0024 · Cited by 3 · see citing works
Maturity-Onset Diabetes of the Young (MODY) in a Racially/Ethnically Diverse Pediatric Population
Relan, S., Alarcon, G., Guffey, D., Minard, C. G., Fang, M. E., Timmons, K., Sonabend, R., Tosur, M., REDONDO, M. J., & Posey, J. E. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf360 · Cited by 2 · see citing works
Deng, L., Lanzinger, S., Casteels, K., Cavallo-Aita, F., SANCTIS, L. D., Fitas, A. L., Huang, C., Kim, J., Patouni, K., Průhová, Š., et al. (2026) · Journal of the Endocrine Society · doi:10.1210/jendso/bvag064 · Cited by 2 · see citing works
Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes
Bouldjennet, F., Gjesing, A. P., Azzouz, M., Abderrahman, S. A., Guecier, A. E., Ali, S. M., Oudjit, B., Mennadi-Lacete, F., Yargui, L., Boudiba, A., et al. (2020) · Diabetes Metabolic Syndrome and Obesity · doi:10.2147/dmso.s269251 · Cited by 2 · see citing works
Uncommon Presentations of Diabetes: Zebras in the Herd
Shidler, K. L., Letourneau, L. R., & Novak, L. M. (2019) · Clinical Diabetes · doi:10.2337/cd19-0019 · Cited by 2 · see citing works
Monogenic diabetes mellitus and clinical implications of genetic diagnosis
Kang, E., Chung, L. Y., Kim, Y. J., Oh, K. E., & Rhie, Y. (2021) · Precision and Future Medicine · doi:10.23838/pfm.2021.00100 · Cited by 2 · see citing works
Frequency and spectrum of glucokinase mutations in an adult Maltese population
Pace, N. P., Grech, C. A., Vella, B., Caruana, R., & Vassallo, J. (2021) · Acta Diabetologica · doi:10.1007/s00592-021-01814-7 · Cited by 2 · see citing works
Concolino, P., Tartaglione, L., Paolis, E. D., Carrozza, C., Urbani, A., Minucci, A., Pitocco, D., & Santonocito, C. (2022) · Genes · doi:10.3390/genes13112104 · Cited by 2 · see citing works
Impact of type 2 diabetes mellitus on cirrhotic patients
abdelaal, S., Taha, A., & Askar, A. A. (2021) · Sohag Medical Journal · doi:10.21608/smj.2021.105141.1284 · Cited by 1 · see citing works
Sefid, F., Tezerjani, M. D., Asadollahi, S., Madani, S. A., Pardal, T., Imani, M., Salmani, Z., Rahmanian, M., Hozhabri, H., Kalantar, S. M., et al. (2025) · Journal of Diabetes Research · doi:10.1155/jdr/9383849 · Cited by 1 · see citing works
The Role of Monogenic Diabetes in Pediatric Type 2 Diabetes
Tucker, S. E., Philipson, L. H., & Naylor, R. N. (2018) · Elsevier eBooks · doi:10.1016/b978-0-323-55138-0.00005-x · Cited by 1 · see citing works
Self-citationMonogener Diabetes - die Kunst ist das Erkennen
Kapellen, T. M. (2020) · Info Diabetologie · doi:10.1007/s15034-020-2158-2 · Cited by 1 · see citing works
Distinct duration and diet dependent lipid profiles and renal complications in GCK-MODYPreprint
Huang, Y., Fan, Y., Liu, Y., Liu, X., Li, W., Yang, Y., Zhang, Z., Ma, S., Ji, S., Chen, S., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.09.17.613598 · Cited by 1 · see citing works
So, M.-K., Huh, J., & Kim, H. S. (2021) · Journal of genetic medicine · doi:10.5734/jgm.2021.18.2.132
Deng, L., SHAH, A. S., & Krishnamurthy, M. (2023) · SSRN Electronic Journal · doi:10.2139/ssrn.4632944
Deng, L., SHAH, A. S., & Krishnamurthy, M. (2024) · medRxiv · doi:10.1101/2024.05.20.24307619
Trends and challenges in managing diabetes mellitus-personalized medicine
Alaoufi, S. M., Alanazi, M. M., ALKhabbaz, G. G., Alharbi, . F., Almutairi, . B., Almutairi, K. A., & Alamri, S. A. (2017) · International Journal of Health Sciences · doi:10.53730/ijhs.v1ns1.15130
Sanyoura, M., Letourneau, L. R., Dickens, L. T., Greeley, S. A. W., Naylor, R. N., Bell, G. I., & Philipson, L. H. (2018) · American Diabetes Association eBooks · doi:10.2337/9781580406666.case11
Self-citation(2018) · American Diabetes Association eBooks · doi:10.2337/9781580406666.parti-i
Low prevalence of GCK gene mutations in Chinese patients with gestational diabetes mellitus
Wang, Z., Huo, L., Lan, L., Chen, Y., Zuo, Q., & Deng, W. (2026) · Clinics · doi:10.1016/j.clinsp.2026.100889
Prediction of maturity-onset diabetes of the young subtypes using machine learning
Figueroa, I., Flores, R., Millán, A. L., Dios, A. D., Frechtel, G. D., López, A. P., & Mennickent, D. (2026) · Frontiers in Digital Health · doi:10.3389/fdgth.2026.1656161
Dubois‐Laforgue, D., Donadille, B., Ciangura, C., Amouyal, C., Arnoux, J., Barat, P., Baron, S., Beltrand, J., Bismuth, É., Bouché, C., et al. (2026) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-026-04272-y
A Partial GCK Gene Deletion in a Pedigree with Stable Mild Hyperglycemia
Ng, N., McCluskey, P., Lefter, M., Gabo Genesis, A., Colclough, K., & Byrne, M. M. (2026) · AACE Endocrinology and Diabetes · doi:10.1016/j.aed.2026.07.014
Monogenic diabetes: Classification, diagnosis, and precision management
Habeb, A. M., & Delvecchio, M. (2026) · International Journal of Pediatrics and Adolescent Medicine · doi:10.4103/ijpam.ijpam_150_26
- Authors
- Carmody, D., Naylor, R. N., Bell, C. D., Berry, S., Montgomery, J. T., Tadie, E. C., Hwang, J. L., Greeley, S. A. W., & Philipson, L. H.
- Affiliations
- University of Chicago (US)
- Corresponding author
- Naylor, Rochelle N.
- ORCID
- Venue
- Acta Diabetologica
- Published
- 2016-04-22
- Volume
- 53
- Issue
- 5
- Pages
- 703-708
- ISSN
- 0940-5429 (ISSN-L)
- 1432-5233
- PMC
- PMC5016218
- OpenAlex
- W2339522457
- Cited by
- 84
- References
- 36
- Citations by year
- 2026: 5 · 2025: 6 · 2024: 7 · 2023: 9 · 2022: 11 · 2021: 13 · 2020: 7 · 2019: 11 · 2018: 9 · 2017: 5 · 2016: 1
- FWCI
- 7.00
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Acta Diabetologica (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- American Diabetes Association (1-11-CT-41)
- National Institutes of Health (P30DK020595, UL1RR024999, K23DK094866, K12-HS023007-01)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Health Sciences › Medicine › Surgery › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- GCK-MODY, monogenic diabetes, misdiagnosis, hypoglycemia, minority representation, genetic testing, diabetes registry
- MeSH terms
- Adolescent, Adult, Child, Diabetes Mellitus, Type 2, Diagnosis, Differential, Female, Glucokinase, Humans, Male, Middle Aged, Mutation, Phenotype, Registries, United States, Selection Bias
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
