Structural variants upstream the coding POU3F4 region, including microdeletions, inversions, and duplications, have also been reported in patients with similar hearing loss phenotypes, thus indicating the presence of cis-regulatory elements (e.g. enhancers) within those regions (even up to 900kb upstream), which if disturbed result in altered POU3F4 expression through LRPE [25–27]. The gene discussed is POU3F4; the disease is hearing loss disorder.