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Genetics: advances in genetic testing for deafness

Shearer, A. Eliota,b; Smith, Richard J.H.a,b,c

doi: 10.1097/MOP.0b013e3283588f5e
GENETICS: Edited by Nathaniel H. Robin

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.

aDepartment of Otolaryngology – Head & Neck Surgery, University of Iowa Carver College of Medicine

bDepartment of Molecular Physiology & Biophysics, University of Iowa Carver College of Medicine

cInterdepartmental PhD Program in Genetics, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA

Correspondence to Richard J.H. Smith, Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Carver College of Medicine, 5270 Carver Biomedical Research Building, University of Iowa, Iowa City, IA 52242, USA. Tel: +1 319 356 3612; e-mail:

© 2012 Lippincott Williams & Wilkins, Inc.