Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis.

Mutations in ATP6V0A4 lead to distal renal acidosis (MIM 602722) with a highly variable range of hearing phenotype. We identified two novel ATP6V0A4 mutations in a Chinese patient with distal renal tubular acidosis and late onset hearing loss, and presented the first direct evidence of progressive hearing loss associated with ATP6V0A4 mutations by sequential audiological assessments. A unique audiometric profile of progressive hearing loss of the patient was described that may provide useful insights when studying the highly variable hearing phenotypes associated with the ATP6V0A4 mutations.