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Nat Genet. 1993 Jul;4(3):289-94.

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

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Ahmanson Department of Pediatrics Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, Los Angeles, California.


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.

[Indexed for MEDLINE]

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