Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.
The A1555G mutation in the 12SrRNA gene has been associated with aminoglycoside induced and nonsyndromic sensorineural hearing impairment. In this study we analyzed Hungarian, Polish and German patients with nonsyndromic severe to profound hearing impairment of unknown origin for this mutation. The frequency of the A1555G mutation in the Hungarian hearing impaired population was below 1.8 %. Three out of 125 Polish patients carrying the A1555G mutation were identified. Among German patients one carrier was found (0.7 %) revealing a homoplastic A1555G mutation, whereas no mutation was detected in control individuals with normal hearing (frequency < 0.6%). In summary the frequencies of the A1555G mutation are low in the hearing impaired as well as in the normal population in Hungary, Poland and Germany. Since the importance of this mutation and its relationship with aminoglycoside exposure is not well understood yet, patients with nonsyndromic hearing impairment should be routinely screened for this mutation to avoid aminoglycoside induced hearing impairment due to increased sensitivity of maternal relatives.
Kupka
Susan
S
Department of Anthropology and Human Genetics, University of Tübingen, Germany. susankupka@yahoo.de
Tóth
Tímea
T
Wróbel
Maciej
M
Zeissler
Ulrike
U
Szyfter
Witold
W
Szyfter
Krzysztof
K
Niedzielska
Grazyna
G
Bal
Jerzy
J
Zenner
Hans-Peter
HP
Sziklai
István
I
Blin
Nikolaus
N
Pfister
Markus
M
D000328:Adult; D000368:Aged; D000409:Alanine / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005820:Genetic Testing; D005858:Germany / Q000453:epidemiology; D005998:Glycine / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011044:Poland / Q000453:epidemiology; D012335:RNA, Ribosomal / Q000235:genetics*
D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D000409:Alanine; D005998:Glycine