Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencingopen access
- Authors
- Cho, Eun-Hee; Min, Jae Woong; Choi, Sun Shim; Choi, Hoon Sung; Kim, Sang-Wook
- Issue Date
- Jun-2017
- Publisher
- KOREAN ENDOCRINE SOC
- Keywords
- Glucokinase; Maturity-onset diabetes of the young; Computational biology
- Citation
- ENDOCRINOLOGY AND METABOLISM, v.32, no.2, pp 296 - 301
- Pages
- 6
- Journal Title
- ENDOCRINOLOGY AND METABOLISM
- Volume
- 32
- Number
- 2
- Start Page
- 296
- End Page
- 301
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/74486
- DOI
- 10.3803/EnM.2017.32.2.296
- ISSN
- 2093-596X
2093-5978
- Abstract
- Glucokinase maturity-onset diabetes of the young (GCK-MODY) represents a distinct subgroup of MODY that does not require hyperglycemia-lowering treatment and has very few diabetes-related complications. Three patients from two families who presented with clinical signs of GCK-MODY were evaluated. Whole-exome sequencing was performed and the effects of the identified mutations were assessed using bioinformatics tools, such as PolyPhen-2, SIFT, and in silico modeling. We identified two mutations: p. Leu30Pro and p. Ser383Leu. In silico analyses predicted that these mutations result in structural conformational changes, protein destabilization, and thermal instability. Our findings may inform future GCK-MODY diagnosis; furthermore, the two mutations detected in two Korean families with GCK-MODY improve our understanding of the genetic basis of the disease.
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