Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients

Susan Kupka, Tímea Tóth, Maciej Wróbel, Ulrike Zeißler, Witold Szyfter, Krzysztof Szyfter, Grazyna Niedzielska, Jerzy Bal, Hans Peter Zenner, István Sziklai, Nikolaus Blin, Markus Pfister

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Abstract

The A1555G mutation in the 12SrRNA gene has been associated with aminoglycoside induced and nonsyndromic sensorineural hearing impairment. In this study we analyzed Hungarian, Polish and German patients with nonsyndromic severe to profound hearing impairment of unknown origin for this mutation. The frequency of the A1555G mutation in the Hungarian hearing impaired population was below 1.8 %. Three out of 125 Polish patients carrying the A1555G mutation were identified. Among German patients one carrier was found (0.7 %) revealing a homoplastic A1555G mutation, whereas no mutation was detected in control individuals with normal hearing (frequency < 0.6%). In summary the frequencies of the A1555G mutation are low in the hearing impaired as well as in the normal population in Hungary, Poland and Germany. Since the importance of this mutation and its relationship with aminoglycoside exposure is not well understood yet, patients with nonsyndromic hearing impairment should be routinely screened for this mutation to avoid aminoglycoside induced hearing impairment due to increased sensitivity of maternal relatives.

Original languageEnglish
Pages (from-to)308-309
Number of pages2
JournalHuman mutation
Volume19
Issue number3
DOIs
Publication statusPublished - Mar 2002

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Kupka, S., Tóth, T., Wróbel, M., Zeißler, U., Szyfter, W., Szyfter, K., Niedzielska, G., Bal, J., Zenner, H. P., Sziklai, I., Blin, N., & Pfister, M. (2002). Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients. Human mutation, 19(3), 308-309. https://doi.org/10.1002/humu.9017