Gene: [0Mh648/MTRNR1] 12S rRNA (mitochondrial); deafness, aminoglycoside-induced (MIM:580000);

GEN

The gene length: 0.05 kb (48bp).

PAT

Aminoglycoside-induced deafness caused by mutations in the mitochondrial 12S ribosomal RNA gene has been described in a number of Asian patients (Pandya-1993). In many individuals, a genetic susceptibility to the ototoxic effects of aminoglycosides can be diagnosed, and deafness can be prevented in maternal relatives by avoidance of these antibiotics (Fischel-Ghodsian-1997)."

REL

GEM:0Mh1671/MTRNR2; GEM:0Ml3229/MTRNR3

REF

PRO,LOC "Anderson S &: Nature, 290, 457-465, 1981
PAT,MUT "Fischel-Ghodsian N &: Am J Otolaryngol, 18, 173-178, 1997
PAT,MUT,POG "Pandya A &: J Med Genet, 34, 169-172, 1997
PAT,MUT "Prezant TR &: Nature Genet, 4, 289-294, 1993

KEY

mito, trl

CLA

coding, basic

LOC

0M H648-1601

MIM

MIM: 561000