dc.contributor.author | Chambers, Christina | |
dc.contributor.author | Fouts, A | |
dc.contributor.author | Dong, F | |
dc.contributor.author | Colclough, K | |
dc.contributor.author | Wang, Z | |
dc.contributor.author | Batish, SD | |
dc.contributor.author | Jaremko, M | |
dc.contributor.author | Ellard, Sian | |
dc.contributor.author | Hattersley, Andrew T. | |
dc.contributor.author | Klingensmith, G | |
dc.contributor.author | Steck, AK | |
dc.date.accessioned | 2015-08-19T12:46:46Z | |
dc.date.issued | 2015-06-08 | |
dc.description.abstract | Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes caused by a mutation in a single gene, often not requiring insulin. The aim of this study was to estimate the frequency and clinical characteristics of MODY at the Barbara Davis Center. A total of 97 subjects with diabetes onset before age 25, a random C-peptide ≥0.1 ng/mL, and negative for all diabetes autoantibodies (GADA, IA-2, ZnT8, and IAA) were enrolled, after excluding 21 subjects with secondary diabetes or refusal to participate. Genetic testing for MODY 1-5 was performed through Athena Diagnostics, and all variants of unknown significance were further analyzed at Exeter, UK. A total of 22 subjects [20 (21%) when excluding two siblings] were found to have a mutation in hepatocyte nuclear factor 4A (n = 4), glucokinase (n = 8), or hepatocyte nuclear factor 1A (n = 10). Of these 22 subjects, 13 had mutations known to be pathogenic and 9 (41%) had novel mutations, predicted to be pathogenic. Only 1 of the 22 subjects had been given the appropriate MODY diagnosis prior to testing. Compared with MODY-negative subjects, the MODY-positive subjects had lower hemoglobin A1c level and no diabetic ketoacidosis at onset; however, these characteristics are not specific for MODY. In summary, this study found a high frequency of MODY mutations with the majority of subjects clinically misdiagnosed. Clinicians should have a high index of suspicion for MODY in youth with antibody-negative diabetes. | en_GB |
dc.identifier.citation | Early Online, first published online: 8 JUN 2015 | en_GB |
dc.identifier.doi | 10.1111/pedi.12289 | |
dc.identifier.uri | http://hdl.handle.net/10871/18082 | |
dc.language.iso | en | en_GB |
dc.publisher | Wiley | en_GB |
dc.relation.url | http://www.ncbi.nlm.nih.gov/pubmed/26059258 | en_GB |
dc.relation.url | http://onlinelibrary.wiley.com/doi/10.1111/pedi.12289/abstract;jsessionid=DC611D96D1CA6EFA6A5C06E7D5868AAE.f02t04 | en_GB |
dc.rights | This is the peer reviewed version of the following article: Chambers, C., Fouts, A., Dong, F., Colclough, K., Wang, Z., Batish, S. D., Jaremko, M., Ellard, S., Hattersley, A. T., Klingensmith, G. and Steck, A. K. (2015), Characteristics of maturity onset diabetes of the young in a large diabetes center. Pediatric Diabetes. doi: 10.1111/pedi.12289, which has been published in final form at http://onlinelibrary.wiley.com/doi/10.1111/pedi.12289/abstract .This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. | en_GB |
dc.subject | GCK | en_GB |
dc.subject | HNF1A | en_GB |
dc.subject | HNF4A | en_GB |
dc.subject | MODY | en_GB |
dc.title | Characteristics of maturity onset diabetes of the young in a large diabetes center | en_GB |
dc.type | Article | en_GB |
dc.identifier.issn | 1399-543X | |
dc.description | Copyright © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd | en_GB |
dc.description | Open access article | |
dc.identifier.journal | Pediatric Diabetes | en_GB |