Journal article
Performance of Cochlear Implant Recipients With GJB2-Related Deafness
American journal of medical genetics, Vol.109(3), pp.167-170
05/01/2002
DOI: 10.1002/ajmg.10330
PMCID: PMC3212411
PMID: 11977173
Abstract
Congenital profound hearing loss affects 0.05–0.1% of children and has many causes, some of which are associated with cognitive delay. For prelingually-deafened cochlear implant recipients, the etiology of deafness is usually unknown. Mutations in
GJB2
have been established as the most common cause of heritable deafness in the United States. In this report, we identify cochlear implant recipients with
GJB2
-related deafness and examine the performance of these individuals. Cochlear implant recipients received a battery of perceptive, cognitive, and reading tests. Neither subjects nor examiners knew the etiology of deafness in these individuals. The implant recipients were then examined for mutations in
GJB2
using an allele-specific polymerase chain reaction assay, single-strand conformation polymorphism analysis, and direct sequencing.
GJB2
mutations were the leading cause of congenital deafness among the cochlear implant recipients screened. Cochlear implant recipients with
GJB2
-related deafness read within one standard deviation of hearing controls better than other congenitally deaf cochlear implant recipients and non-cochlear implant recipients. Individuals with congenital deafness should be offered
GJB2
screening. Positive results establish an etiologic diagnosis and provide prognostic, genetic, and therapeutic information. Effective rehabilitation for profoundly deaf individuals with
GJB2
-related deafness is possible through cochlear implantation.
Details
- Title: Subtitle
- Performance of Cochlear Implant Recipients With GJB2-Related Deafness
- Creators
- Glenn E Green - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology–Head and Neck Surgery, University of Iowa, Iowa City, IowaDaryl A Scott - Department of Pediatrics, University of Utah Affiliated Hospitals, Salt Lake City, UtahJoshua M McDonald - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology–Head and Neck Surgery, University of Iowa, Iowa City, IowaHolly F.B Teagle - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology–Head and Neck Surgery, University of Iowa, Iowa City, IowaBruce J Tomblin - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology–Head and Neck Surgery, University of Iowa, Iowa City, IowaLinda J Spencer - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology–Head and Neck Surgery, University of Iowa, Iowa City, IowaGeorge G Woodworth - Department of Statistics and Actuarial Sciences, University of Iowa, Iowa City, IowaJohn F Knutson - Department of Psychology, University of Iowa, Iowa City, IowaBruce J Gantz - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology–Head and Neck Surgery, University of Iowa, Iowa City, IowaVal C Sheffield - Department of Pediatrics, University of Iowa, Iowa City, IowaRichard J.H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology–Head and Neck Surgery, University of Iowa, Iowa City, Iowa
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.109(3), pp.167-170
- DOI
- 10.1002/ajmg.10330
- PMID
- 11977173
- PMCID
- PMC3212411
- NLM abbreviation
- Am J Med Genet
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Publisher
- Wiley
- Grant note
- P50 DC000242-15 || DC / National Institute on Deafness and Other Communication Disorders : NIDCD
- Language
- English
- Date published
- 05/01/2002
- Academic Unit
- Communication Sciences and Disorders; Psychological and Brain Sciences; Biostatistics; Medical Genetics and Genomics; Otolaryngology; Statistics and Actuarial Science; Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurosurgery; Internal Medicine; Ophthalmology and Visual Sciences
- Record Identifier
- 9984007294802771
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