title: Genetics:  advances in genetic testing for deafness.
abstract: OBJECTIVE
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.affiliation: Department of Otolaryngology - Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA.
authors.forename: A Eliot
authors.initials: AE
authors.lastname: Shearer
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
mesh_terms: D003638:Deafness / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans