Journal article
Genetics: advances in genetic testing for deafness
Current opinion in pediatrics, Vol.24(6), pp.679-686
12/2012
DOI: 10.1097/MOP.0b013e3283588f5e
PMCID: PMC3694178
PMID: 23042251
Abstract
Purpose of review: To provide an update on recently discovered human deafness genes and to describe advances in comprehensive genetic testing platforms for deafness, both of which have been enabled by new massively parallel sequencing technologies.
Recent findings: Over the review period, three syndromic and six nonsyndromic deafness genes have been discovered, bringing the total number of nonsyndromic deafness genes to 64. Four studies have shown the utility of massively parallel sequencing for comprehensive genetic testing for deafness. Three of these platforms have been released on a clinical or commercial basis.
Summary: Deafness is the most common sensory deficit in humans. Genetic diagnosis has traditionally been difficult due to extreme genetic heterogeneity and a lack of phenotypic variability. For these reasons, comprehensive genetic screening platforms have been developed with the use of massively parallel sequencing. These technologies are also accelerating the pace of gene discovery for deafness. Because genetic diagnosis is the basis for molecular therapies, these advances lay the foundation for the clinical care of deaf and hard-of-hearing persons in the future.
Details
- Title: Subtitle
- Genetics: advances in genetic testing for deafness
- Creators
- A Eliot Shearer - Department of Otolaryngology – Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USARichard J H Smith - Department of Otolaryngology – Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
- Resource Type
- Journal article
- Publication Details
- Current opinion in pediatrics, Vol.24(6), pp.679-686
- DOI
- 10.1097/MOP.0b013e3283588f5e
- PMID
- 23042251
- PMCID
- PMC3694178
- NLM abbreviation
- Curr Opin Pediatr
- ISSN
- 1040-8703
- eISSN
- 1531-698X
- Grant note
- F30 DC011674 || DC / National Institute on Deafness and Other Communication Disorders : NIDCD
- Language
- English
- Date published
- 12/2012
- 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
- 9984006313602771
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