Goal of identifying nearly all genetic causes of deafness is within reach

© 2013, Mary Ann Liebert, Inc., publishers

At least half of all cases of deafness that develop from birth through infancy in developed countries have a genetic basis, as do many cases of later onset progressive hearing loss. To date, at least 1,000 mutations occurring in 64 genes in the human genome have been linked to hearing loss. Next-generation DNA sequencing technologies are enabling the identification of these deafness-causing genetic variants, as described in a Review article in Genetic Testing and Molecular Biomarkers, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available on the Genetic Testing and Molecular Biomarkers website.

In "Next-Generation Sequencing in Genetic Hearing Loss," Denise Yan and Xue Zhong Liu, University of Miami (Florida), and Mustafa Tekin and Susan Blanton, University of Miami Miller School of Medicine, review the advances in high-throughput, massively parallel DNA sequencing that amplify and repeatedly sequence only specific regions of the in which genes linked to deafness are likely to be found. This strategy, known as "targeted resequencing," allows researchers to find disease-related gene mutations much more quickly than searching through the entire genome. To date at least 1,000 DNA variants at more than 130 sites in the human genome have been identified that can cause hearing loss not associated with other symptoms or syndromes.

"Over the next decade, most of the variant genes responsible for deafness will be identified and such knowledge will lead to the development of practical treatments," conclude the authors.

"Knowledge of the underlying deafness will greatly assist development of targeted therapy," says Kenneth I. Berns, MD, PhD, Editor-in-Chief of Genetic Testing and Molecular Biomarkers, and Director of the University of Florida's Genetics Institute, College of Medicine, Gainesville, FL.

add to favorites email to friend print save as pdf

Related Stories

Diagnosing hearing loss at a fraction of the time and cost

Sep 14, 2011

Over 28 million Americans are hearing impaired, and 50 percent of these cases can be traced to genetic causes. The condition can be especially challenging for children born hearing impaired because spoken language, reading, ...

Breakthrough in deafness and ovarian failure syndrome

Mar 29, 2013

(Medical Xpress)—Researchers from Manchester Biomedical Research Centre at Saint Mary's Hospital and the University of Manchester have identified a new gene, which increases our understanding of the rare ...

Recommended for you

Right environment could improve stem cell therapies

Oct 23, 2014

Stem cell therapies are being hailed as a potential cure for many major health conditions, but there is much still to learn about the highly complex environments needed to optimise these therapies, according to researchers ...

User comments