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

M. Kocova; L. Elblova; S. Pruhova; J. Lebl; P. Dusatkova

doi:10.1016/j.diabres.2017.04.001

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

Journal

Diabetes Research and Clinical Practice

Date Issued

2017-08

Author(s)

L. Elblova

S. Pruhova

J. Lebl

P. Dusatkova

DOI

10.1016/j.diabres.2017.04.001

Abstract

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.