Abstract
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.
Original language | English (US) |
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Pages (from-to) | 289-294 |
Number of pages | 6 |
Journal | Nature Genetics |
Volume | 4 |
Issue number | 3 |
DOIs | |
State | Published - 1993 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)