Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss

@article{Li2005MutationalAO,
  title={Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss},
  author={Zhi-yuan Li and Ronghua Li and Jianfu Chen and Zhisu Liao and Yi Zhu and Yaping Qian and Sudao Xiong and Selena Heman-Ackah and Jianbo Wu and Daniel I. Choo and Min-Xin Guan},
  journal={Human Genetics},
  year={2005},
  volume={117},
  pages={9-15}
}
Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here a systematic mutational screening of the mitochondrial 12S rRNA gene in 128 Chinese pediatric subjects with sporadic aminoglycoside-induced and non-syndromic hearing loss. We show that aminoglycoside ototoxicity accounts for 48% of cases of hearing loss in this Chinese pediatric population. Of the known deafness-associated mutations in this gene, the incidence of the A1555G… CONTINUE READING

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