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

@article{Li2012NovelMI,
  title={Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis.},
  author={Xiaohua Li and Yongchuan Chai and Zheng Tao and Lei Li and Zhiwu Huang and Yun Li and Hao Wu and Tao H. Yang},
  journal={International journal of pediatric otorhinolaryngology},
  year={2012},
  volume={76 1},
  pages={152-4}
}
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… CONTINUE READING