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

作者：Li, Xiaohua; Chai, Yongchuan; Tao, Zheng; Li, Lei; Huang, Zhiwu; Li, Yun; Wu, Hao^*; Yang, Tao

来源：International Journal of Pediatric Otorhinolaryngology, 2012, 76(1): 152-154.

DOI：10.1016/j.ijporl.2011.10.017

• ATP6V0A4
• Mutation
• Progressive hearing loss
• 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.

• 出版日期2012-1
• 单位上海交通大学