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) |
|---|---|
| Pages (from-to) | 289-294 |
| Number of pages | 6 |
| Journal | Nature Genetics |
| Volume | 4 |
| Issue number | 3 |
| DOIs | |
| State | Published - 1993 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Mitochondrial ribosomal RNA mutation associated with both antibiotic- induced and non-syndromic deafness. / Prezant, T. R.; Agapian, J. V.; Bohlman, M. C.; Bu, X.; Oztas, S.; Qiu, W. Q.; Arnos, K. S.; Cortopassi, Gino A; Jaber, L.; Rotter, J. I.; Shohat, M.; Fischel-Ghodsian, N.
In: Nature Genetics, Vol. 4, No. 3, 1993, p. 289-294.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mitochondrial ribosomal RNA mutation associated with both antibiotic- induced and non-syndromic deafness
AU - Prezant, T. R.
AU - Agapian, J. V.
AU - Bohlman, M. C.
AU - Bu, X.
AU - Oztas, S.
AU - Qiu, W. Q.
AU - Arnos, K. S.
AU - Cortopassi, Gino A
AU - Jaber, L.
AU - Rotter, J. I.
AU - Shohat, M.
AU - Fischel-Ghodsian, N.
PY - 1993
Y1 - 1993
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0027226069&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027226069&partnerID=8YFLogxK
U2 - 10.1038/ng0793-289
DO - 10.1038/ng0793-289
M3 - Article
C2 - 7689389
AN - SCOPUS:0027226069
VL - 4
SP - 289
EP - 294
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 3
ER -