Journal article
Genetic screening for hearing loss
Clinical otolaryngology and allied sciences, Vol.28(4), pp.285-290
08/2003
DOI: 10.1046/j.1365-2273.2003.00700.x
PMID: 12871240
Abstract
The recent discovery that mutations in GJB2, the gene that encodes connexin 26 (Cx26), are responsible for up to half the cases of autosomal recessive non-syndromic hearing loss and a significant proportion of sporadic hearing loss has had immense implications for medical evaluation and genetic screening. It is now possible to couple mutational analysis of GJB2 with universal screening and provide an unequivocal diagnosis of inherited hearing loss in up to 50% of babies with severe to profound non-syndromic hearing loss. Currently, other genetic tests should be performed on the basis of specific clinical features. Current potential candidates for screening include SLC26A4, in the presence of specific temporal bone anomalies, and WFS1, in the presence of a low-frequency hearing loss.
Details
- Title: Subtitle
- Genetic screening for hearing loss
- Creators
- S W Hone - Department of Pediatric Otolaryngology/HNS, Alder Hay Hospital, Liverpool, UK. stephenhone@hotmail.comR J H Smith
- Resource Type
- Journal article
- Publication Details
- Clinical otolaryngology and allied sciences, Vol.28(4), pp.285-290
- DOI
- 10.1046/j.1365-2273.2003.00700.x
- PMID
- 12871240
- NLM abbreviation
- Clin Otolaryngol Allied Sci
- ISSN
- 0307-7772
- eISSN
- 1365-2273
- Publisher
- England
- Grant note
- R01 DC02842 / NIDCD NIH HHS
- Language
- English
- Date published
- 08/2003
- 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
- 9984006320302771
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