A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency
Figure 2
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.
