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.


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


METHODS
Teaching hospital, tertiary referral center.


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


METHODS
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.


CONCLUSIONS
The A1555G mutation in the mitochondrial DNA 12S rRNA is not a major cause of HI in the Austrian Caucasian population.
Ramsebner
Reinhard
R
Department of Otorhinolaryngology, Medical University of Vienna, Austria.
Lucas
Trevor
T
Schoefer
Christian
C
Ludwig
Martin
M
Baumgartner
Wolf-Dieter
WD
Wachtler
Franz J
FJ
Kirschhofer
Karin
K
Frei
Klemens
K
D001301:Audiometry, Pure-Tone; D001317:Austria / Q000453:epidemiology; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics; D004247:DNA / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D005787:Gene Frequency; D034381:Hearing Loss / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000502:physiology; D012150:Polymorphism, Restriction Fragment Length; D012335:RNA, Ribosomal / Q000235:genetics*
D000075302:Connexin 30; D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D000072259:Connexin 26; C068044:GJB3 protein, human; D004247:DNA