The DOI matches its Crossref record; 44 of the 44 references it cites were found in a registry or an index.
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
Open accessAbstract
AIMS/HYPOTHESIS: Mutations in the GCK and HNF1A genes are the most common cause of the monogenic forms of diabetes known as 'maturity-onset diabetes of the young'. GCK encodes the glucokinase enzyme, which acts as the pancreatic glucose sensor, and mutations result in stable, mild fasting hyperglycaemia. A progressive insulin secretory defect is seen in patients with mutations in the HNF1A and HNF4A genes encoding the transcription factors hepatocyte nuclear factor-1 alpha and -4 alpha. A molecular genetic diagnosis often changes management, since patients with GCK mutations rarely require pharmacological treatment and HNF1A/4A mutation carriers are sensitive to sulfonylureas. These monogenic forms of diabetes are often misdiagnosed as type 1 or 2 diabetes. Best practice guidelines for genetic testing were developed to guide testing and reporting of results. METHODS: A workshop was held to discuss clinical criteria for testing and the interpretation of molecular genetic test results. The participants included 22 clinicians and scientists from 13 countries. Draft best practice guidelines were formulated and edited using an online tool (http://www.coventi.com). RESULTS: An agreed set of clinical criteria were defined for the testing of babies, children and adults for GCK, HNF1A and HNF4A mutations. Reporting scenarios were discussed and consensus statements produced. CONCLUSIONS/INTERPRETATION: Best practice guidelines have been established for monogenic forms of diabetes caused by mutations in the GCK, HNF1A and HNF4A genes. The guidelines include both diagnostic and predictive genetic tests and interpretation of the results.
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Cites
Early-onset type-ll diabetes mellitus (MODY4) linked to IPF1
Staffers, D. A., Ferrer, J., Clarke, W. L., & Habener, J. F. (1997) · Nature Genetics · doi:10.1038/ng1097-138 · Cited by 882
Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY
Horikawa, Y., Iwasaki, N., Hara, M., Furuta, H., Hinokio, Y., Cockburn, B. N., Lindner, T., Yamagata, K., Ogata, M., Tomonaga, O., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-384 · Cited by 880
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus
Malecki, M. T., Jhala, U. S., Antonellis, A., Fields, L., Doria, A., Orban, T., Saad, M., Warram, J. H., Montminy, M., & Krolewski, A. S. (1999) · Nature Genetics · doi:10.1038/15500 · Cited by 619
Genetic cause of hyperglycaemia and response to treatment in diabetes
Pearson, E. R., Starkey, B. J., Powell, R. J., Gribble, F. M., Clark, P. M., & Hattersley, A. T. (2003) · The Lancet · doi:10.1016/s0140-6736(03)14571-0 · Cited by 607
Self-citationMutations in the glucokinase gene of the fetus result in reduced birth weight
Hattersley, A. T., Beards, F., Ballantyne, E., Appleton, M., Harvey, R., & Ellard, S. (1998) · Nature Genetics · doi:10.1038/953 · Cited by 594
Self-citationDiagnosis and Classification of Diabetes Mellitus
American Diabetes Association (2007) · Diabetes Care · doi:10.2337/dc07-s042 · Cited by 576
Tattersall, R. B., Fajans, S. S., & Arbor, A. (1975) · Diabetes · doi:10.2337/diab.24.1.44 · Cited by 475
Pearson, E. R., Boj, S. F., Steele, A. M., Barrett, T., Stals, K., Shield, J. P., Ellard, S., Ferrer, J., & Hattersley, A. T. (2007) · PLoS Medicine · doi:10.1371/journal.pmed.0040118 · Cited by 427
Self-citationMutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction
Ræder, H., Johansson, S., Holm, P. I., Haldorsen, I. S., Mas, E., Sbarra, V., Nermoen, I., Eide, S. Å., Grevle, L., Bjørkhaug, L., et al. (2006) · Nature Genetics · doi:10.1038/ng1708 · Cited by 376
Mild Familial Diabetes with Dominant Inheritance
(1974) · QJM: An International Journal of Medicine · doi:10.1093/oxfordjournals.qjmed.a067391 · Cited by 354
Cited by
McIntyre, H. D., Catalano, P., Zhang, C., Desoye, G., Mathiesen, E. R., & Damm, P. (2019) · Nature Reviews Disease Primers · doi:10.1038/s41572-019-0098-8 · Cited by 1,850
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
Self-citationOsbak, 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 485
Self-citationUsing SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
Flanagan, S. E., Patch, A.-M., & Ellard, S. (2010) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2010.0036 · Cited by 418
Self-citationPihoker, 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
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Metadata
- Authors
- Ellard, S., Bellanné-Chantelot, C., Hattersley, A. T., & European Molecular Genetics Quality Network (EMQN) MODY group
- Venue
- Diabetologia
- Published
- 2008-02-23
- Volume
- 51
- Issue
- 4
- Pages
- 546-553
- ISSN
- 0012-186X (ISSN-L)
- 1432-0428
- OpenAlex
- W2107950101
- Cited by
- 433
- References
- 44
- FWCI
- 26.83
- Type
- journal article
- Language
- en
- Open access
- hybrid
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