GJB2 and sensory perception of sound: As a result, 11% (4/36) of cases exhibited an identical heterozygous del(125 kb) (Cases P66, P71, P76, and P82 in Table S3), located in the upstream of GJB2. Among them, three cases carrying the GJB2 c.109G>A variant presented with mild-to-moderate hearing loss, while one case carrying the GJB2 c.235del (p.Leu79CysfsTer3) variant had profound hearing loss.