ESPN and hearing loss disorder: The 36163 patient was found to carry two different heterozygous novel pathogenic variants in two different genes: c.1674 + 1G > A in MYO6 and c.2467C > T/p.(Gln823 *) in ESPN. Segregation analysis in this family showed that the affected father also carried the variant in MYO6, whereas the healthy mother carried the variant in ESPN. From these results it can be deduced that the variant in MYO6 is responsible for AD hearing loss, whereas the ESPN variant presents an AR inheritance pattern (Figure 2).