Τίτλος:
Sudden hearing loss in a family with GJB2 related progressive deafness
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Mutations of GJB2, the gene encoding connexin 26, have been associated with prelingual, sensorineural hearing loss of mild to profound severity. One specific mutation, the 35delG, has accounted for the majority of mutations detected in the GJB2 gene in Caucasian populations. Recent studies have described progression of hearing loss in a proportion of cases with GJB2 deafness. We report an unusual family with four 35delG homozygous members, in which the parents were deaf-mute whilst both children had a postlingual progressive hearing loss. Furthermore, the son suffered from sudden hearing loss. © 2008 Elsevier Ireland Ltd. All rights reserved.
Συγγραφείς:
Kokotas, H.
Theodosiou, M.
Korres, G.
Grigoriadou, M.
Ferekidou, E.
Giannoulia-Karantana, A.
Petersen, M.B.
Korres, S.
Περιοδικό:
International Journal of Pediatric Otorhinolaryngology
Λέξεις-κλειδιά:
aciclovir; buflomedil; connexin 26; dexamethasone; prednisolone, adult; article; audiography; case report; clinical feature; disease course; drug megadose; family study; female; gene mutation; genetic analysis; hearing aid; human; laboratory test; male; nuclear magnetic resonance imaging; priority journal; sudden deafness, Adult; Connexins; Deafness; Disease Progression; Female; Greece; Hearing Loss, Sudden; Homozygote; Humans; Male; Middle Aged; Mutation; Pedigree; Young Adult
DOI:
10.1016/j.ijporl.2008.08.006
