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 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.
Ramsebner
Reinhard
R
*Department of Otorhinolaryngology; †Center of Anatomy and Cell Biology, Department of Chromatin and Developmental Dynamics, Medical University of Vienna; and ‡Department of Otorhinolaryngology, Krankenhaus der Barmherzigen Brüder, 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