Deafness in the genomics era

Our understanding of hereditary hearing loss has greatly improved since the discovery of the first human deafness gene. These discoveries have only accelerated due to the great strides in DNA sequencing technology since the completion of the human genome project. Here, we review the immense impact t...

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Bibliographic Details
Published in:Hearing research 2011-12, Vol.282 (1), p.1-9
Main Authors: Shearer, A. Eliot, Hildebrand, Michael S., Sloan, Christina M., Smith, Richard J.H.
Format: Article
Language:English
Subjects:
Animals
Biological and medical sciences
Deafness - diagnosis
Deafness - genetics
Deafness - physiopathology
DNA Mutational Analysis
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Testing
Genomics - methods
Hearing - genetics
Heredity
Humans
Medical sciences
Non tumoral diseases
Otorhinolaryngology. Stomatology
Pedigree
Phenotype
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Summary:Our understanding of hereditary hearing loss has greatly improved since the discovery of the first human deafness gene. These discoveries have only accelerated due to the great strides in DNA sequencing technology since the completion of the human genome project. Here, we review the immense impact that these developments have had in both deafness research and clinical arenas. We review commonly used genomic technologies as well as the application of these technologies to the genetic diagnosis of hereditary hearing loss and to the discovery of novel deafness genes. ► Genomic technologies have greatly improved our understanding of deafness. ► Genomic technologies can provide comprehensive genetic diagnosis for hearing loss for the first time. ► Eight new deafness genes have been discovered using next-generation sequencing.
ISSN:0378-5955
1878-5891
DOI:10.1016/j.heares.2011.10.001