In the largest study in this field (45 persons with MGS), seven patients were found to carry mutations in the ORC6 gene [5]; three patients had genotype c.257_258delTT (p.Phe86fs) + c.695A>C (p.Tyr232Ser); and the combination of mutations c.2T>C(p.Met1Thr) + c.449+5G>A in the ORC6 gene was detected in four patients (Figure 4). The gene discussed is ORC6; the disease is Mungan syndrome.