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Diabetologia
Published in: Diabetologia 8/2011

01-08-2011 | Research Letter

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY

Authors: A. M. Steele, N. D. Tribble, R. Caswell, K. J. Wensley, A. T. Hattersley, A. L. Gloyn, S. Ellard

Published in: Diabetologia | Issue 8/2011

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Excerpt

There is renewed interest in the difficulties of interpreting the role of missense variants identified in large scale medical resequencing projects made possible by next generation sequencing technologies. To assist in ascribing a role in disease causation for these variants, a combination of statistics, bioinformatic tools and, ultimately, functional studies, will be needed. Missense variants identified in highly penetrant Mendelian disorders where co-segregation studies can be performed provide a model to explore the utility of these tools. …
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Literature
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Ellard S, Bellanne-Chantelot C, Hattersley AT (2008) Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 51:546–553PubMedCrossRef
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Osbak KK, Colclough K, Saint-Martin C et al (2009) Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat 30:1512–1526PubMedCrossRef
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Thomson KL, Gloyn AL, Colclough K et al (2003) Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). Hum Mutat 22:417PubMedCrossRef
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Gloyn AL, Odili S, Zelent D et al (2005) Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young. J Biol Chem 280:14105–14113PubMedCrossRef
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Gloyn AL, Odili S, Buettger C, Njolstad PR, Shiota C, Magnuson MA, Matschinsky FM (2004) Glucokinase and the regulation of blood sugar: a mathematical model predicts the threshold for glucose stimulated insulin release for GCK gene mutations that cause hyper- and hypoglycaemia. In: Magnuson MA, Matschinsky FM (eds) Glucokinase and glycemic disease from basics to novel therapeutics. Karger, Basel, pp 92–109CrossRef
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Metadata
Title
The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
Authors
A. M. Steele
N. D. Tribble
R. Caswell
K. J. Wensley
A. T. Hattersley
A. L. Gloyn
S. Ellard
Publication date
01-08-2011
Publisher
Springer-Verlag
Published in
Diabetologia / Issue 8/2011
Print ISSN: 0012-186X
Electronic ISSN: 1432-0428
DOI
https://doi.org/10.1007/s00125-011-2194-5

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