Mitochondrial
Perte auditive causée par les antibiotiques aminoglycosides chez les personnes porteuses de variants du gène mitochondrial MT-RNR1, tels que m.1555A>G, m.1494C>T ou m.1095T>C, qui se transmettent par la lignée maternelle.
Ce que change un diagnostic
Les recommandations cliniques (CPIC) conseillent d'éviter les aminoglycosides chez les porteurs, sauf si une infection met la vie en danger et qu'aucune alternative sûre n'existe ; les apparentés maternels peuvent également porter la variante.
Également connu sous le nom de
aminoglycoside-induced hearing loss; deafness, mitochondrial, modifier of, mitochondrial; deafness, streptomycin-induced; mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure; mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure; mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure; mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure; mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure; mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure; mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure; mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure; streptomycin ototoxicity
