GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants.

May Sanyoura,Lisa Letourneau,Amy E Knight Johnson,Daniela Del Gaudio,Siri Atma W Greeley,Louis H Philipson,Rochelle N Naylor

Diabetes Research and Clinical Practice（2019）

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摘要

We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade. Using ACMG guidelines, 26% were pathogenic, 56% likely pathogenic and 18% were of uncertain significance. Those with pathogenic variants had clinical features consistent with GCK-MODY.

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关键词

Monogenic diabetes,MODY,Glucokinase,Pathogenic variants,Next-generation sequencing

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