Fig. 1.

Schematic representation of COCH gene, encoding cochlin, showing the signal peptide (SP) for secretion, followed by the LCCL domain, and intervening domain (ivd1) followed by two vWFA-like domains separated by ivd2. Positions of previously known pathogenic variants (27 missense and 2 in-frame deletions) are indicated in black. The novel I541F variant (the subject of our current report) is shown in red and with an asterisk. Positions of all cysteine residues (C), which are critical for disulfide bond formation and the structural integrity of the protein, are indicated