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GTR Home > Conditions/Phenotypes > Aminoglycoside antibacterials response

Summary

Excerpted from the GeneReview: Nonsyndromic Hearing Loss and Deafness, Mitochondrial
Mitochondrial nonsyndromic hearing loss and deafness is characterized by sensorineural hearing loss (SNHL) of variable onset and severity. Pathogenic variants in MT-RNR1 can be associated with predisposition to aminoglycoside ototoxicity and/or late-onset SNHL. Hearing loss associated with aminoglycoside ototoxicity is bilateral and severe to profound, occurring within a few days to weeks after administration of any amount (even a single dose) of an aminoglycoside antibiotic such as gentamycin, tobramycin, amikacin, kanamycin, or streptomycin. Pathogenic variants in MT-TS1 are usually associated with childhood onset of SNHL that is generally nonsyndromic – although the MT-TS1 substitution m.7445A>G has been found in some families who also have palmoplantar keratoderma (scaling, hyperkeratosis, and honeycomb appearance of the skin of the palms, soles, and heels).

Available tests

2 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: LCAL3, MTO2, MTU1, TRMT, TRMT1, TRMU
    Summary: tRNA mitochondrial 2-thiouridylase

  • Also known as: MTTS1, TRNS1
    Summary: mitochondrially encoded tRNA serine 1 (UCN)

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Consumer resources

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