Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia

Kok-Siong Poon; Karen Mei-Ling Tan; Evelyn Siew-Chuan Koay; Andrew Sng

doi:10.1038/s41439-020-0096-0

Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia

Hum Genome Var. 2020 Mar 30:7:7. doi: 10.1038/s41439-020-0096-0. eCollection 2020.

Authors

Kok-Siong Poon¹, Karen Mei-Ling Tan¹, Evelyn Siew-Chuan Koay², Andrew Sng³

Affiliations

¹ 1Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospital Singapore, Singapore, Singapore.
² 2Department of Pathology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
³ 3Division of Paediatric Endocrinology, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute, National University Hospital, Singapore, Singapore.

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.

Keywords: Disease genetics; Genetic testing.