Patient P4, with the rare inherited disorder Wilson's disease, presented two known heterozygous ATP7B mutations (c.2333G>T, p.R778L; c.2810detT, MIM# 606882); 127 of the 254 reads at this locus carried the prevalent substitution mutation, and almost half of the reads included the deletion mutation [21], [22]. This evidence concerns the gene ATP7B and Wilson disease.