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KMID : 1141520170320020296
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Endocrinology and Metabolism
2017 Volume.32 No. 2 p.296 ~ p.301
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Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing
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Cho Eun-Hee
Min Jae-Woong
Choi Sun-Shim
Choi Hoon-Sung
Kim Sang-Wook
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Abstract
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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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KEYWORD
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Glucokinase, Maturity-onset diabetes of the young, Computational biology
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