Journal article
Genetic testing for deafness— GJB2 and SLC26A4 as causes of deafness
Journal of communication disorders, Vol.35(4), pp.367-377
2002
DOI: 10.1016/S0021-9924(02)00091-6
PMID: 12160355
Abstract
Recent advances in the molecular biology of hearing and deafness are being transferred from the research laboratory to the clinical arena. This transfer of knowledge will enhance patient care by making the diagnosis of hereditary deafness easier; however physicians and audiologists must clearly identify that subset of the deaf and hearing populations best served by this knowledge. It is also essential for physicians and audiologists to understand the limitations of genetic testing for deafness, and it is imperative that these limitations be appropriately explained to patients and their families.
The reader will be introduced to the concept of genetic testing for deafness. Two genes that make appreciable contributions to the autosomal recessive non-syndromic deafness (ARNSD) genetic load will be reviewed,
GJB2 and
SLC26A4. In addition, the unique aspects of genetic counseling for deafness and recurrence chance estimates are explained.
Details
- Title: Subtitle
- Genetic testing for deafness— GJB2 and SLC26A4 as causes of deafness
- Creators
- Richard J.H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA 52242, USANathaniel H Robin - Departments of Genetics, Pediatrics and Otolaryngology, University Hospitals of Cleveland, Case Western Reserve University School of Medicine, Iowa City, IA 52242, USA
- Resource Type
- Journal article
- Publication Details
- Journal of communication disorders, Vol.35(4), pp.367-377
- DOI
- 10.1016/S0021-9924(02)00091-6
- PMID
- 12160355
- NLM abbreviation
- J Commun Disord
- ISSN
- 0021-9924
- eISSN
- 1873-7994
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 2002
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006300502771
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