Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

Nat Genet. 1993 Jul;4(3):289-94. doi: 10.1038/ng0793-289.


Maternally transmitted non-syndromic deafness was described recently both in pedigrees with susceptibility to aminoglycoside ototoxicity and in a large Arab-Israeli pedigree. Because of the known action of aminoglycosides on bacterial ribosomes, we analysed the sequence of the mitochondrial rRNA genes of three unrelated patients with familial aminoglycoside-induced deafness. We also sequenced the complete mitochondrial genome of the Arab-Israeli pedigree. All four families shared a nucleotide 1555 A to G substitution in the 12S rRNA gene, a site implicated in aminoglycoside activity. Our study offers the first description of a mitochondrial rRNA mutation leading to disease, the first cases of non-syndromic deafness caused by a mitochondrial DNA mutation and the first molecular genetic study of antibiotic-induced ototoxicity.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aminoglycosides
  • Anti-Bacterial Agents / adverse effects
  • Base Sequence
  • Deafness / chemically induced
  • Deafness / genetics*
  • Ethnicity
  • Female
  • Humans
  • Israel
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation
  • RNA / genetics*
  • RNA, Mitochondrial
  • RNA, Ribosomal / genetics*


  • Aminoglycosides
  • Anti-Bacterial Agents
  • RNA, Mitochondrial
  • RNA, Ribosomal
  • RNA, ribosomal, 12S
  • RNA