Document Detail


Genetics: advances in genetic testing for deafness.
MedLine Citation:
PMID:  23042251     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
A Eliot Shearer; Richard J H Smith
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Review    
Journal Detail:
Title:  Current opinion in pediatrics     Volume:  24     ISSN:  1531-698X     ISO Abbreviation:  Curr. Opin. Pediatr.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-13     Completed Date:  2013-06-04     Revised Date:  2013-07-11    
Medline Journal Info:
Nlm Unique ID:  9000850     Medline TA:  Curr Opin Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  679-86     Citation Subset:  IM    
Affiliation:
Department of Otolaryngology - Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA.
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MeSH Terms
Descriptor/Qualifier:
Deafness / genetics*
Genetic Testing / methods*
High-Throughput Nucleotide Sequencing / methods
Humans
Grant Support
ID/Acronym/Agency:
1F30DC011674/DC/NIDCD NIH HHS; F30 DC011674/DC/NIDCD NIH HHS; R01 DC002842/DC/NIDCD NIH HHS; R01 DC002842/DC/NIDCD NIH HHS; R01 DC003544/DC/NIDCD NIH HHS; R01 DC012049/DC/NIDCD NIH HHS; R01 DC012049/DC/NIDCD NIH HHS
Comments/Corrections

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