According to recent studies, copy number variationsof H2B.W locus with other genes [plectin (PLEC), tetraspanin7 (TSPAN7) and p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3)] were found not only inmen with sertoli cell only syndrome (SCOS), but alsoin women suffering from premature ovarian failure(POF) and XY gonadal dysgenesis. The gene discussed is PLEC; the disease is small cell osteogenic sarcoma.