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GTR Home > Conditions/Phenotypes > Mitochondrial non-syndromic sensorineural hearing loss

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

30 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: COI, MTCO1, COX1
    Summary: mitochondrially encoded cytochrome c oxidase I

  • Also known as: MTRNR1, RNR1
    Summary: mitochondrially encoded 12S RNA

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

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