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Kanamycin 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).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Shin-ichi Usami
Shin-ya Nishio
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Available tests

2 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

  • Also known as: , RNR1
    Summary: RNA, ribosomal 45S cluster 1

  • 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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