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Expert Opin Med Diagn. 2008 Mar;2(3):231-48. doi: 10.1517/17530059.2.3.231.

Inherited hearing loss: molecular genetics and diagnostic testing.

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  • 1Stanford University School of Medicine, Department of Pathology and Pediatrics, L235, 300 Pasteur Drive, Stanford, CA 94305, USA +1 650 724 2403 ; +1 650 724 1567 ;



Hearing loss is a clinically and genetically heterogeneous condition with major medical and social consequences. It affects up to 8% of the general population.


This review recapitulates the principles of auditory physiology and the molecular basis of hearing loss, outlines the main types of non-syndromic and syndromic deafness by mode of inheritance, and provides an overview of current clinically available genetic testing.


This paper reviews the literature on auditory physiology and on genes, associated with hearing loss, for which genetic testing is presently offered.


The advent of molecular diagnostic assays for hereditary hearing loss permits earlier detection of the underlying causes, facilitates appropriate interventions, and is expected to generate the data necessary for more specific genotype-phenotype correlations.

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