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J Postgrad Med. 2019 Oct-Dec;65(4):241-243. doi: 10.4103/jpgm.JPGM_166_19.

Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY).

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1
Department of Endocrinology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.

Abstract

We report a 24-year-old female with early-onset and persistent mild fasting hyperglycemia due to glucokinase-maturity-onset diabetes of the young (GCK-MODY). A c.505A>G (p. Lys169Glu) missense mutation of the GCK gene was identified. In silico analysis indicated that the mutation affected a conserved amino acid and is disease-causing. This report describes GCK-MODY in a Chinese family and stresses that in managing this condition it is important to avoid unnecessary drug treatment and excessive anxiety about mild hyperglycemia.

KEYWORDS:

Glucokinase; Lys169Glu mutation; glucokinase-MODY; missense mutation

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