By clinical exome sequencing, we were able to detect the compound heterozygous mutations c.2T>C(p.Met1Thr) and c.449+5G>A of the ORC6 gene in the 3-year-old boy who was admitted to the Tomsk Genetic Clinic for verifying the clinical diagnosis of Jeune syndrome (Figure 1). This evidence concerns the gene ORC6 and Jeune syndrome.