Relevance of the A1555G Mutation in the 12S rRNA Gene for Hearing Impairment in Austria

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 audiometr...

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Published inOtology & neurotology Vol. 28; no. 7; p. 884
Main Authors Ramsebner, Reinhard, Lucas, Trevor, Schoefer, Christian, Ludwig, Martin, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin, Frei, Klemens
Format Journal Article
LanguageEnglish
Published United States 01.10.2007
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Summary: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.
ISSN:1537-4505
DOI:10.1097/MAO.0b013e3181461b26