Article

Genotype-phenotype discrepancy among family members carrying a novel glucokinase mutation: insights into the interplay of GCK-MODY and insulin resistance

2024-08-20

Abstract excerpt

<h4>Aims/Hypothesis</h4> Heterozygous inactivating mutations in the glucokinase (GCK) gene are known to cause maturity-onset diabetes of the young (GCK-MODY). We identified a novel variant of uncertain significance (VUS) GCK mutation (c.77A>T, p.Q26L) in two family members presenting markedly different severities of diabetic phenotypes. This study aimed to elucidate the potential diabetogenic effect of GCK-Q26L an...

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Literature Corpus work: ac251168-ab6e-564c-8c95-146704c57a9d
DOI: 10.1101/2024.08.13.24311668

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