DNAJC17 regulates RNA splicing in auditory hair cells and is required for hearing.
RNA splicing is essential for gene regulation, but its role in maintaining cochlear hair cell function remains incompletely understood. Here, we identify a heterozygous missense variant (c.401A>C, p.E134A) in DNAJC17, which encodes a spliceosome-associated protein, that segregates with adult-onset progressive hearing l...