Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis
Copyright policy )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.
- Shanghai Jiao Tong University China (People's Republic of)
- XinHua Hospital China (People's Republic of)
Adult, Male, Vacuolar Proton-Translocating ATPases, Hearing Loss, Sensorineural, Genes, Recessive, Acidosis, Renal Tubular, Severity of Illness Index, Phenotype, Asian People, Audiometry, Mutation, Disease Progression, Humans, Genetic Predisposition to Disease, Follow-Up Studies
Adult, Male, Vacuolar Proton-Translocating ATPases, Hearing Loss, Sensorineural, Genes, Recessive, Acidosis, Renal Tubular, Severity of Illness Index, Phenotype, Asian People, Audiometry, Mutation, Disease Progression, Humans, Genetic Predisposition to Disease, Follow-Up Studies
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