They comprised a partial duplication affecting exons 2–14 of NF2, leading to the disruption of the gene and causing its carrier to develop neurofibromatosis type II (S12, see Figure 5A); a partial deletion affecting exons 45–48 of DMD, increasing the likelihood that the female carrier might have male offspring suffering from Duchenne muscular dystrophy (S13, see Figure 5B); and a deletion affecting TNXA, TNXB, and CYP21A2 within the RCCX module of the MHC class III region (S14). The gene discussed is TNXA; the disease is NF2-related schwannomatosis.