title: The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss.
abstract: Mitochondrial DNA mutations are undoubtedly a factor that contributes to sensorineural, non-syndromic deafness. One specific mutation, the A1555G, is associated with both aminoglycoside-induced and non-syndromic hearing impairment. The mutation is considered to be the most common of all mitochondrial DNA deafness-causing mutations but its frequency varies between different populations. Here we report on the first large screening of the A1555G mitochondrial DNA mutation in the Greek population. The aim of this study was to determine the frequency of the A1555G mutation in Greek sensorineural, non-syndromic deafness patients, with childhood onset. We screened 478 unrelated Greek patients with hearing loss of any degree and found two individuals harboring the A1555G mutation (0.42%). Both cases had been subjected to aminoglycosides. They were prelingual, familial and homoplasmic for the A1555G mutation. One of the cases was also found heterozygous for the frequent GJB2 35delG mutation, while the other case was negative. The A1555G mutation seems to be less common than in other European populations.
authors.affiliation: Department of Genetics, Institute of Child Health, 'Aghia Sophia' Children's Hospital, Athens 11527, Greece. hkokotas@yahoo.gr
authors.forename: Haris
authors.initials: H
authors.lastname: Kokotas
authors.forename: Maria
authors.initials: M
authors.lastname: Grigoriadou
authors.forename: George S
authors.initials: GS
authors.lastname: Korres
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Ferekidou
authors.forename: Eleftheria
authors.initials: E
authors.lastname: Papadopoulou
authors.forename: Polyxene
authors.initials: P
authors.lastname: Neou
authors.forename: Aglaia
authors.initials: A
authors.lastname: Giannoulia-Karantana
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Kandiloros
authors.forename: Stavros
authors.initials: S
authors.lastname: Korres
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D000072259:Connexin 26; D017630:Connexins; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006115:Greece; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D055815:Young Adult
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D000072259:Connexin 26