Journal article
Audiological Manifestations and Features of Connexin 26 Deafness
Audiological medicine, Vol.1(1), pp.5-11
2003
DOI: 10.1080/16513860310003021
Abstract
Connexin 26 (Cx26) deafness is the most common type of congenital deafness in many countries. The diagnosis is dependent on the molecular identification of pathogenic DNA mutations, and carries prognostic and therapeutic implications that can be used to provide improved medical and audiological care. Although variability in the level of residual hearing precludes the use of audiometric testing to determine which individuals may benefit from molecular testing, identification of Cx26 deafness may be suggested by its typical features: bilateral, symmetric, congenital, down-sloping, sensorineural deafness associated with familial recurrence and a good prognosis for cochlear implantation. Comorbidity is rare and vestibular function and temporal bone anatomy are usually normal.
Details
- Title: Subtitle
- Audiological Manifestations and Features of Connexin 26 Deafness
- Creators
- GLENN E Green - University of ArizonaROBERT F Mueller - St James's University HospitalEDWARD S Cohn - Boys TownKAREN B Avraham - Tel Aviv UniversityMOIEN Kanaan - Bethlehem UniversityRICHARD JH Smith - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Audiological medicine, Vol.1(1), pp.5-11
- Publisher
- Informa UK Ltd
- DOI
- 10.1080/16513860310003021
- ISSN
- 1651-386X
- eISSN
- 1651-3835
- Language
- English
- Date published
- 2003
- Academic Unit
- Stead Family Department of Pediatrics; Roy J. Carver Department of Biomedical Engineering; Internal Medicine; Otolaryngology; Iowa Neuroscience Institute; Anatomy and Cell Biology; Molecular Physiology and Biophysics
- Record Identifier
- 9984256933002771
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