GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.
| Citation | Sanyoura, May, et al. “GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 Unpublished Variants”. 2019. Diabetes Research and Clinical Practice, vol. 151, 2019, pp. 231–236. |
| Center | University of Chicago |
| Author | May Sanyoura, Lisa Letourneau, Amy E Knight Johnson, Daniela Del Gaudio, Siri Atma W Greeley, Louis H Philipson, Rochelle N Naylor |
| Keywords | glucokinase, MODY, Monogenic diabetes, Next-generation sequencing, Pathogenic variants |
| Abstract |
We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade. Using ACMG guidelines, 26% were pathogenic, 56% likely pathogenic and 18% were of uncertain significance. Those with pathogenic variants had clinical features consistent with GCK-MODY. |
| Year of Publication |
2019
|
| Journal |
Diabetes research and clinical practice
|
| Volume |
151
|
| Number of Pages |
231-236
|
| Date Published |
05/2019
|
| ISSN Number |
1872-8227
|
| DOI |
10.1016/j.diabres.2019.04.017
|
| Alternate Journal |
Diabetes Res. Clin. Pract.
|
| PMID |
31063852
|
| PMCID |
PMC6544496
|
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