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Mitochondriale A1555G-Mutation

Molekulargenetische Diagnostik bei sporadischen Fällen nichtsyndromaler Schwerhörigkeit

Molecular genetic diagnosis of the mitochondrial A1555G mutation in patients displaying sporadic non-syndromic hearing impairment

HNO volume 52, pages 968–972 (2004)Cite this article

Zusammenfassung

Hintergrund

Die A1555G-Mutation der mitochondrialen DNA verursacht in der Hälfte der Mutationsträger eine sensorineurale Schwerhörigkeit mit variabler Ausprägung und bewirkt eine erhöhte Empfindlichkeit gegenüber Aminoglykosiden. Die Einnahme von aminoglykosidhaltigen Antibiotika kann daher den Hörverlust auslösen bzw. verschlechtern.

Patienten und Methoden

391 Patienten mit sporadischer, nichtsyndromaler, mittel- bis hochgradiger Schwerhörigkeit wurden mit molekulargenetischen Methoden auf das Vorliegen der A1555G-Mutation getestet.

Ergebnisse

Zwei der Patienten (0,5%) zeigten die Mutation, woraufhin weitere Familienmitglieder analysiert wurden. Alle Verwandten der mütterlichen Linie trugen, wie zu erwarten, ebenfalls die Mutation, wobei nur insgesamt 3 Personen aus den beiden Familien eine Schwerhörigkeit entwickelten. Phänotypisch zeigten alle 3 Patienten eine variabel ausgeprägte sensorineurale Schwerhörigkeit.

Schlussfolgerung

Unter Patienten mit nichtsyndromaler, sporadischer Schwerhörigkeit ist die A1555G-Mutation als genetische Ursache des Hörverlustes eher selten. Aufgrund des variablen klinischen Bildes und der Möglichkeit präventiver Maßnahmen ist jedoch ein genetischer Test gerade in dieser Patientengruppe sinnvoll.

Abstract

Background

The A1555G mutation in mitochondrial DNA is the cause of hearing impairment in about 50% of all carriers. The severity and onset of this impairment is predominantly affected by the use of aminoglycosides.

Patients and Methods

A total of 391 patients displaying sporadic, non-syndromic, mild to severe hearing impairment were analyzed for the A1555G mutation using molecular genetic methods.

Results

We analysed additional family members of the two patients (0.5% of the total) who had the mutation. All maternal relatives carried the mutation, but only three individuals from the two families displayed a variable sensorineural hearing loss.

Conclusion

The A1555G mutation is infrequently involved as a genetic cause of sporadic, non-syndromic hearing impairment. Nevertheless, based on the variable clinical outcome of hearing impairment and the possibility of preventive steps, a genetic test in this patient subgroup is indicated.

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Affiliations

  1. Hals-Nasen-Ohren-Klinik der Universität Tübingen

    S. Kupka, B. Bodden-Kamps, M. Baur, H.-P. Zenner &  M. Pfister

  2. Abt. Molekulare Genetik am Institut für Anthropologie und Humangenetik des Universitätsklinikum Tübingen

    S. Kupka

  3. Molekulare Genetik—HNO-Klinik Tübingen, Elfriede-Aulhorn-Straße 5, 72076 , Tübingen

    M. Pfister

Authors
  1. S. Kupka
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  2. B. Bodden-Kamps
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  3. M. Baur
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  4. H.-P. Zenner
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  5. M. Pfister
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Corresponding author

Correspondence to M. Pfister.

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Kupka, S., Bodden-Kamps, B., Baur, M. et al. Mitochondriale A1555G-Mutation. HNO 52, 968–972 (2004). https://doi.org/10.1007/s00106-003-0994-8

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  • DOI: https://doi.org/10.1007/s00106-003-0994-8

Schlüsselwörter

  • Mitochondriale DNA
  • A1555G-Mutation
  • Aminoglykoside
  • Nichtsyndromale, sporadische Schwerhörigkeit

Keywords

  • Mitochondrial DNA
  • A1555G mutation
  • Aminoglycosides
  • Non-syndromic, sporadic hearing impairment