Bi-allelic pathogenic variants in the TMPRSS3 gene result in non-syndromic deafness at the DFNB8/10 locus. TMPRSS3-realted hearing loss is a common form of congenital deafness in humans. Although two decades have passed since TMPRSS3 was casually linked to deafness, its expression in the inner ear and the best course of clinical intervention for individuals with TMPRSS3-realted deafness has been controversial. In this study, we show that TMPRSS3 is primarily expressed in the cochlea sensory epithelium and not in the sound transducing neurons of the cochlea. We also show that patients with TMPRSS3-related deafness have excellent speech understanding with cochlear implants. These discoveries improve our understanding of TMPRSS3-related deafness and improve patient care. (By Dr. Rick F Nelson, https://jmg.bmj.com/content/early/2022/08/11/jmg-2022-108654 )
This 3 years old girl with TMPRSS3-hearing loss has bilateral cochlear implants.