Open AccessHeterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY)
Author(s) -
Wei Zhou,
M Chen,
Haiyan Zhou,
Zehao Zhang
Publication year - 2019
Publication title -
journal of postgraduate medicine/journal of postgraduate medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.405
H-Index - 52
eISSN - 0972-2823
pISSN - 0022-3859
DOI - 10.4103/jpgm.jpgm_166_19
Subject(s) - glucokinase , medicine , maturity onset diabetes of the young , missense mutation , mutation , endocrinology , diabetes mellitus , gene , genetics , type 2 diabetes , biology
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.