A new de novo mutation in the GCK gene causing MODY2.

Alessia Cappelli,Serena Silvestri,Stefano Tumini,Silvia Carinci,Paola Cipriano,Luciano Massi,Paolo Staffolani,Luigi Pianese

Diabetes Research and Clinical Practice（2011）

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摘要

Analysis of glucokinase (GCK) gene in a 15-year-old male identified a new frameshift mutation in exon 4 caused by a heterozygous guanine deletion at position 382 (c.382delG, p.E128Xfs). No mutation was detected in the parents. Polymorphic markers’ study excluded false paternity indicating that c.382delG is a novel de novo mutation.

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关键词

GCK,MODY2,De novo mutation

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