Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.

@article{Zhao2004MaternallyIA,
  title={Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.},
  author={Hui Zhao and Ronghua Li and Qiuju Wang and Qingfeng Yan and J Deng and Dong-yi Han and Yidong Bai and Wie-yen Young and Min-Xin Guan},
  journal={American journal of human genetics},
  year={2004},
  volume={74 1},
  pages={139-52}
}
We report here the characterization of a large Chinese family with maternally transmitted aminoglycoside-induced and nonsyndromic deafness. In the absence of aminoglycosides, some matrilineal relatives in this family exhibited late-onset/progressive deafness, with a wide range of severity and age at onset. Notably, the average age at onset of deafness has changed from 55 years (generation II) to 10 years (generation IV). Clinical data reveal that the administration of aminoglycosides can induce… CONTINUE READING
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