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

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...

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Autores principales: Poon, Kok-Siong, Tan, Karen Mei-Ling, Koay, Evelyn Siew-Chuan, Sng, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7105490/
https://www.ncbi.nlm.nih.gov/pubmed/32257292
http://dx.doi.org/10.1038/s41439-020-0096-0
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author Poon, Kok-Siong
Tan, Karen Mei-Ling
Koay, Evelyn Siew-Chuan
Sng, Andrew
author_facet Poon, Kok-Siong
Tan, Karen Mei-Ling
Koay, Evelyn Siew-Chuan
Sng, Andrew
author_sort Poon, Kok-Siong
collection PubMed
description 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.
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spelling pubmed-71054902020-04-06 Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia Poon, Kok-Siong Tan, Karen Mei-Ling Koay, Evelyn Siew-Chuan Sng, Andrew Hum Genome Var Data Report 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. Nature Publishing Group UK 2020-03-30 /pmc/articles/PMC7105490/ /pubmed/32257292 http://dx.doi.org/10.1038/s41439-020-0096-0 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Poon, Kok-Siong
Tan, Karen Mei-Ling
Koay, Evelyn Siew-Chuan
Sng, Andrew
Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia
title Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia
title_full Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia
title_fullStr Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia
title_full_unstemmed Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia
title_short Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia
title_sort genetic testing of gck-mody identifies a novel pathogenic variant in a chinese boy with early onset hyperglycemia
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7105490/
https://www.ncbi.nlm.nih.gov/pubmed/32257292
http://dx.doi.org/10.1038/s41439-020-0096-0
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