Novel glucokinase gene mutation in the first Macedonian family tested for MODY

Abstrakt

We present a boy with mild hyperglycemia detected during an upper respiratory infection. Novel splicing mutation in the intron 1 of the GCK gene (c.45+1G>A) was detected, and was subsequently confirmed in his father.

This is the first case of genetically confirmed Macedonian family with MODY.

Klíčová slova

• GCK-MODY
• GCK mutation
• Mild hyperglycemia