@article{627d0a0bbfe542ce8ad4d08624d5e2c4,
title = "Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness",
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.",
author = "Prezant, {Toni R.} and Agapian, {John V.} and Bohlman, {M. Charlotte} and Xiangdong Bu and Sitki {\"O}ztas and Qiu, {Wei Qin} and Arnos, {Kathleen S.} and Cortopassi, {Gino A.} and Lutfi Jaber and Rotter, {Jerome I.} and Mordechai Shohat and Nathan Fischel-Ghodsian",
year = "1993",
month = jul,
doi = "10.1038/ng0793-289",
language = "אנגלית",
volume = "4",
pages = "289--294",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",
}