This is the first report of recessive COQ2 pathogenic mutations in adults, however recessive COQ2 mutations are known to cause primary coenzyme Q10 (CoQ10) deficiency-1 (COQ10D1; OMIM 607426) which includes phenotype of infantile multisystem disorder or nephrotic syndrome [5–12]; COQ2 is involved in the synthesis of CoQ10. This evidence concerns the gene COQ2 and nephrotic syndrome.