PMC3447227_01
Pedigree of the family of the proband. The proband is marked with a red square. Filled symbols indicate family members with diabetes. The carrier of the GCK deletion mutation is marked with Del/N. Family members tested negative for the GCK deletion are marked with N/N.
CRIM.GENETICS2011-768610.001.jpg
PMC3447227_01_CRIM.GENETICS2011-768610.001.jpg
fig1
The father, grandfather, two of the grandfather's brothers, and the great grandfather were diagnosed with type 2 DM (Figure 1).
Detection of a whole GCK gene deletion (MODY2) by multiplex ligation-dependent amplification dosage assay (MLPA). Graphical representation of HNF4A (MODY1), HNF1A (MODY3), HNF1B (MODY5), GCK (MODY2), Chromosome X, and Y probes normalised to controls in the proband (a) and one of the examined family members (b). All GCK probes are expressed in half dosage in the proband indicating a total GCK deletion.
CRIM.GENETICS2011-768610.002.jpg
PMC3447227_01_CRIM.GENETICS2011-768610.002.jpg
fig2
At that time a multiplex ligation-dependent amplification dosage assay (MLPA) revealed a whole GCK gene deletion (Figure 2).