Human Genetics

, Volume 117, Issue 1, pp 9–15

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

  • Zhiyuan Li
  • Ronghua Li
  • Jianfu Chen
  • Zhisu Liao
  • Yi Zhu
  • Yaping Qian
  • Sudao Xiong
  • Selena Heman-Ackah
  • Jianbo Wu
  • Daniel I. Choo
  • Min-Xin Guan
Original Investigation

DOI: 10.1007/s00439-005-1276-1

Cite this article as:
Li, Z., Li, R., Chen, J. et al. Hum Genet (2005) 117: 9. doi:10.1007/s00439-005-1276-1

Abstract

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 mutation is ~13% and ~2.9% in this Chinese pediatric population with aminoglycoside-induced and non-syndromic hearing loss, respectively. Furthermore, mutations at position 961 in the 12S rRNA gene account for ~1.7% and 4.4% of cases of aminoglycoside-induced and non-syndromic hearing loss in this Chinese clinical population, respectively. The T1095C mutation has been identified in one maternally inherited family with aminoglycoside-induced and non-syndromic hearing loss. However, the C1494T mutation was not detected in this clinical population. In addition, three variants, A827G, T1005C and A1116G, in the 12S rRNA gene, localized at highly conserved sites, may play a role in the pathogenesis of aminoglycoside ototoxicity. These data strongly suggest that the mitochondrial 12S rRNA is a hot-spot for deafness-associated mutations in the Chinese population.

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Zhiyuan Li
    • 1
  • Ronghua Li
    • 2
  • Jianfu Chen
    • 1
  • Zhisu Liao
    • 1
  • Yi Zhu
    • 1
  • Yaping Qian
    • 2
  • Sudao Xiong
    • 1
  • Selena Heman-Ackah
    • 2
  • Jianbo Wu
    • 1
  • Daniel I. Choo
    • 3
    • 5
  • Min-Xin Guan
    • 2
    • 3
    • 4
    • 5
  1. 1.Department of Otolaryngology, The First Affiliated Hospital and Zhejiang Provincial Key Laboratory of Medical GeneticsWenzhou Medical CollegeWenzhouChina
  2. 2.Division and Program in Human GeneticsCincinnati Children’s Hospital Medical CenterCincinnatiUSA
  3. 3.Center for Hearing and Deafness ResearchCincinnati Children’s Hospital Medical CenterCincinnatiUSA
  4. 4.Zhejiang Provincial Key Laboratory of Medical GeneticsSchool of Life Sciences, Wenzhou Medical CollegeWenzhouChina
  5. 5.Department of PediatricsUniversity of Cincinnati College of MedicineCincinnatiUSA