Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria

Otol Neurotol. 2007 Oct;28(7):884-6.

Abstract

Objective: To analyze the prevalence and importance of the maternally inherited A1555G mutation in the 12S rRNA gene in the Austrian population.

Study design: Investigation for mutations of genetically affected familial and sporadic cases of hearing impairment (HI), including analyses of audiometric data.

Setting: Teaching hospital, tertiary referral center.

Patients: Forty-five familial and 77 sporadic cases of nonsyndromic HI in an Austrian Caucasian ethnic group.

Main outcome measure(s): Pure-tone audiometric data and screening by restriction fragment length polymorphism analysis after exclusion of GJB2 (Connexin 26) caused hearing loss.

Results: In the investigated hearing-impaired population, the mutation A1555G in the mitochondrial 12S rRNA gene was not detected.

Conclusion: The A1555G mutation in the mitochondrial DNA 12S rRNA is not a major cause of HI in the Austrian Caucasian population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Audiometry, Pure-Tone
  • Austria / epidemiology
  • Connexin 26
  • Connexin 30
  • Connexins / genetics
  • DNA / genetics
  • DNA, Mitochondrial / genetics
  • Gene Frequency
  • Hearing Loss / epidemiology*
  • Hearing Loss / genetics*
  • Humans
  • Mutation / physiology
  • Polymorphism, Restriction Fragment Length
  • RNA, Ribosomal / genetics*

Substances

  • Connexin 30
  • Connexins
  • DNA, Mitochondrial
  • GJB2 protein, human
  • GJB6 protein, human
  • RNA, Ribosomal
  • RNA, ribosomal, 12S
  • Connexin 26
  • GJB3 protein, human
  • DNA