Abstract

Glucokinase-maturity-onset diabetes of the young (GCK-MODY or MODY 2), caused by a heterozygous inactivating variant in the Glucokinase (GCK) gene, is a common form of MODY. Here, we present a case of GCK-MODY in a young Chinese boy, his sister and his father with a novel pathogenic variant in exon 8 of the GCK gene, NM_000162.5:c.1015del, p.(Glu339Argfs*14), which is predicted to cause a significant change in protein structure and function.

Details

Title
Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia
Author
Kok-Siong, Poon 1 ; Tan, Karen Mei-Ling 1 ; Koay, Evelyn Siew-Chuan 2   VIAFID ORCID Logo  ; Sng, Andrew 3 

1  National University Hospital Singapore, Molecular Diagnosis Centre, Department of Laboratory Medicine, Singapore, Singapore (GRID:grid.412106.0) (ISNI:0000 0004 0621 9599) 
2  National University of Singapore, Department of Pathology, Yong Loo Lin School of Medicine, Singapore, Singapore (GRID:grid.4280.e) (ISNI:0000 0001 2180 6431) 
3  Khoo Teck Puat - National University Children’s Medical Institute, National University Hospital, Division of Paediatric Endocrinology, Department of Paediatrics, Singapore, Singapore (GRID:grid.412106.0) (ISNI:0000 0004 0621 9599) 
Publication year
2020
Publication date
2020
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-020-0096-0
ProQuest document ID
2384221239
Copyright
This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.