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

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 conse...

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Detalles Bibliográficos
Autores principales: Zhou, W, Chen, M, Zhou, H, Zhang, Z
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6813687/
https://www.ncbi.nlm.nih.gov/pubmed/31571622
http://dx.doi.org/10.4103/jpgm.JPGM_166_19
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author Zhou, W
Chen, M
Zhou, H
Zhang, Z
author_facet Zhou, W
Chen, M
Zhou, H
Zhang, Z
author_sort Zhou, W
collection PubMed
description 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.
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spelling pubmed-68136872019-10-31 Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY) Zhou, W Chen, M Zhou, H Zhang, Z J Postgrad Med Case Report 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. Wolters Kluwer - Medknow 2019 /pmc/articles/PMC6813687/ /pubmed/31571622 http://dx.doi.org/10.4103/jpgm.JPGM_166_19 Text en Copyright: © 2019 Journal of Postgraduate Medicine http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Zhou, W
Chen, M
Zhou, H
Zhang, Z
Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY)
title Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY)
title_full Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY)
title_fullStr Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY)
title_full_unstemmed Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY)
title_short Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY)
title_sort heterozygous lys169glu mutation of glucokinase gene in a chinese family having glucokinase-maturity-onset diabetes of the young (gck-mody)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6813687/
https://www.ncbi.nlm.nih.gov/pubmed/31571622
http://dx.doi.org/10.4103/jpgm.JPGM_166_19
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