Clinical assessment of HNF1A and GCK variants and identification of a novel mutation causing MODY2.

Shoemaker AH, Zienkiewicz J, Moore DJ
Diabetes Res Clin Pract. 2012 96 (2): e36-9

PMID: 22341299 · PMCID: PMC3560353 · DOI:10.1016/j.diabres.2012.01.032

A child with impaired fasting glucose was found to be heterozygous for a novel variant at c.659G>A in GCK and a variant at c.1663C>T in HNF1A. Structural modeling and clinical correlation suggests that the GCK variant causes monogenic diabetes while the variant in HNF1A is unlikely to be pathogenic.

Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

MeSH Terms (7)

Adolescent Diabetes Mellitus, Type 2 Female Glucokinase Hepatocyte Nuclear Factor 1-alpha Humans Mutation

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