title: Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings.
abstract: Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 have been shown as a major contributor to prelingual, sensorineural, nonsyndromic deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations and is one of the most frequent disease mutations identified so far with highest carrier frequency of 3,5% in the Greek population. In a collaboration with the major referral centers for childhood deafness in Greece, patients were examined by an extensive questionnaire to exclude syndromic forms and environmental causes of deafness and by allele-specific PCR for the detection of the 35delG mutation. The 35delG mutation was found in 32.1% of the alleles in 173 unrelated cases of prelingual deafness: 50 homozygotes and 11 heterozygotes. Individuals heterozygous for the 35delG mutation were further analyzed by direct genomic sequencing of the coding region of the GJB2 gene, which revealed R184P and 486insT mutations in single alleles. We conclude that the 35delG GJB2 mutation is responsible for one third of prelingual, sensorineural deafness in Greece, which is higher than the usually quoted 20% for Caucasian populations.
authors.affiliation: Departments of Otorhinolaryngology and Pediatrics, Aristotle University of Thessaloniki, 23 A Sofias Street, GR-546 23 Thessaloniki, Greece. tiliades@med.auth.gr
authors.forename: T
authors.initials: T
authors.lastname: Iliades
authors.forename: N
authors.initials: N
authors.lastname: Eleftheriades
authors.forename: V
authors.initials: V
authors.lastname: Iliadou
authors.forename: A
authors.initials: A
authors.lastname: Pampanos
authors.forename: N
authors.initials: N
authors.lastname: Voyiatzis
authors.forename: J
authors.initials: J
authors.lastname: Economides
authors.forename: P
authors.initials: P
authors.lastname: Leotsakos
authors.forename: P
authors.initials: P
authors.lastname: Neou
authors.forename: M
authors.initials: M
authors.lastname: Tsakanikos
authors.forename: T
authors.initials: T
authors.lastname: Antoniadi
authors.forename: I
authors.initials: I
authors.lastname: Konstantopoulou
authors.forename: D
authors.initials: D
authors.lastname: Yannoukakos
authors.forename: M
authors.initials: M
authors.lastname: Grigoriadou
authors.forename: A
authors.initials: A
authors.lastname: Skevas
authors.forename: M B
authors.initials: MB
authors.lastname: Petersen
mesh_terms: D001301:Audiometry, Pure-Tone; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006115:Greece / Q000453:epidemiology; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011159:Population Surveillance; D015995:Prevalence; D011795:Surveys and Questionnaires
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26