Variants of human CLDN9 cause mild to profound hearing loss

Here is a novel variant of CLDN9 and its association with hearing loss both in human and mice!! https://t.co/8RbzOW32DL #genetics #tightjunctions #HearingLoss

We proposed the E159 side chain of CLDN9 could be at a CLDN/CLDN interface based on our structure. Here they find a mutant to K causes deafness. “The two bi-allelic variants of CLDN9 described here point to CLDN9 as a bona fide human deafness gene.”