Genetic mutations are a major cause of hearing loss in developed countries: At least half of all infants who become deaf can trace their conditions to mutations, as can many people who develop progressive hearing loss in later life. Now, high-throughput, massively parallel DNA sequencing technologies are shedding light on which genetic variants are responsible.
Researchers from the University of Miami Miller School of Medicine (Miami, FL) used the next-generation sequencing technologies to amplify and repeatedly sequence only those regions of the human genome likely to contain genes linked to deafness. Such "targeted resequencing" enables location of disease-related mutations much more quickly than does searching through the entire genome. By this method, the researchers found at least 1,000 DNA variants that can cause hearing loss not associated with other symptoms or syndromes.1
They expect that most variant genes responsible for deafness will be identified during the coming decade—and that this work will enable development of treatments.
1. D. Yan, M. Tekin, S. H. Blanton, and X. Z. Liu, Genetic Testing and Molecular Biomarkers, doi:10.1089/gtmb.2012.0464 (2013).