title: Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.
abstract: 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.
authors.affiliation: Department of Anthropology and Human Genetics, University of Tübingen, Germany. susankupka@yahoo.de
authors.forename: Susan
authors.initials: S
authors.lastname: Kupka
authors.forename: Tímea
authors.initials: T
authors.lastname: Tóth
authors.forename: Maciej
authors.initials: M
authors.lastname: Wróbel
authors.forename: Ulrike
authors.initials: U
authors.lastname: Zeissler
authors.forename: Witold
authors.initials: W
authors.lastname: Szyfter
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Szyfter
authors.forename: Grazyna
authors.initials: G
authors.lastname: Niedzielska
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bal
authors.forename: Hans-Peter
authors.initials: HP
authors.lastname: Zenner
authors.forename: István
authors.initials: I
authors.lastname: Sziklai
authors.forename: Nikolaus
authors.initials: N
authors.lastname: Blin
authors.forename: Markus
authors.initials: M
authors.lastname: Pfister
mesh_terms: 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*
chemical_list: D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D000409:Alanine; D005998:Glycine