TMPRSS3 and hearing loss disorder: Hiller et al. (2006) described the 3nt deletion caused by rs2243187 in IL19 but did not report increased exon skipping. rs743920 was associated with change in EMID1 expression (Ge et al., 2005), however its splicing impact was not recognized. Conversely, studies linking TMPRSS3 variants to hearing loss did not report rs8130564 to be significant (Lee et al., 2013; Chung et al., 2014). Interestingly, rs2252576 (in which we did not find a splicing alteration) has been associated to Alzheimer’s dementia in Down syndrome (Mok et al., 2014).