title: Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece.
abstract: The present study describes the audiological profile of genetic hearing loss resulting from GJB2 mutations in northern Greece, as this represents the most frequent single cause of childhood sensorineural hearing loss. The 35delG mutation in homozygosity was detected in 27 of 107 patients (25.2%). The audiological profile is that of a profound or severe sensorineural hearing loss, with a sloping or flat configuration of the audiogram, mostly symmetrical, non-progressive and affecting more the higher frequencies. This profile underlines the importance of early identification and genetic family counseling leading to the future possibility of prevention of deafness.
authors.affiliation: Department of Otorhinolaryngology, Aristotle University of Thessaloniki, Thessaloniki, Greece. vivian_iliadou@yahoo.gr
authors.forename: V
authors.initials: V
authors.lastname: Iliadou
authors.forename: N
authors.initials: N
authors.lastname: Eleftheriades
authors.forename: A S
authors.initials: AS
authors.lastname: Metaxas
authors.forename: A
authors.initials: A
authors.lastname: Skevas
authors.forename: T
authors.initials: T
authors.lastname: Kiratzidis
authors.forename: A
authors.initials: A
authors.lastname: Pampanos
authors.forename: N
authors.initials: N
authors.lastname: Voyiatzis
authors.forename: M
authors.initials: M
authors.lastname: Grigoriadou
authors.forename: M B
authors.initials: MB
authors.lastname: Petersen
authors.forename: T
authors.initials: T
authors.lastname: Iliades
mesh_terms: D000293:Adolescent; D001301:Audiometry, Pure-Tone; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006115:Greece / Q000453:epidemiology; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015995:Prevalence; D018570:Risk Assessment; D012720:Severity of Illness Index
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26