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Deafness

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Molecular Pathology in Clinical Practice

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Abstract

Recent advances in the molecular biology of hearing and deafness are being transferred from the research laboratory to the clinical arena. This transfer of knowledge is enhancing patient care by facilitating the diagnosis of hereditary deafness. Traditionally, hereditary deafness has been distinguished from nongenetic causes of deafness by otologic, audiologic, and physical examinations, complemented by a family history and ancillary tests such as temporal bone computed tomography, urinalysis, thyroid function studies, ophthalmoscopy, and electrocardiography. Even using this test battery, an unequivocal distinction between genetic and nongenetic causes of deafness often is difficult. If comorbid conditions are identified, the deafness may fall into one of more than 400 recognized types of syndromic hearing loss, but if hearing loss segregates as the only abnormality, diagnosing the deafness as nonsyndromic and inherited is challenging.1

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Author information

Authors and Affiliations

  1. Department of Otolaryngology, University of Iowa, Iowa City, IA, 52242, USA

    Richard J. H. Smith MD (Sterba Hearing Research Professor in Otolaryngology, Vice Chair, Director and Professor)

  2. Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, IA, 52242, USA

    Richard J. H. Smith MD (Sterba Hearing Research Professor in Otolaryngology, Vice Chair, Director and Professor)

  3. Department of Internal Medicine, Division of Nephrology, University of Iowa, Iowa City, IA, 52242, USA

    Richard J. H. Smith MD (Sterba Hearing Research Professor in Otolaryngology, Vice Chair, Director and Professor)

  4. Department of Medical Genetics, University of Antwerp, B2610, Antwerp, Belgium

    Guy Van Camp PhD

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  1. Richard J. H. Smith MD
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Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University and New York Presbyterian Hospital, New York, NY, 10021, USA

    Debra G. B. Leonard MD, PhD (Professor and Vice Chair for Laboratory Medicine) (Professor and Vice Chair for Laboratory Medicine)

  2. Hematology, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA

    Adam Bagg MD (Director) (Director)

  3. Department of Pathology and Laboratory Medicine, Emory University Hospital, Atlanta, GA, 30322, USA

    Angela M. Caliendo MD, PhD (Vice Chair and Associate Professor) (Vice Chair and Associate Professor)

  4. Northwestern University Feinberg School of Medicine, Evanston, IL, 60201

    Karen L. Kaul MD, PhD (Professor) (Professor)

  5. Department of Pathology and Laboratory Medicine, Evanston Northwestern Healthcare, Evanston, IL, 60201, USA

    Karen L. Kaul MD, PhD (Professor) (Professor)

  6. Molecular Pathology Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania Health System, Philadelphia, PA, 19104, USA

    Vivianna M. Van Deerlin MD, PhD (Director) (Director)

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Smith, R.J.H., Van Camp, G. (2007). Deafness. In: Leonard, D.G.B., Bagg, A., Caliendo, A.M., Kaul, K.L., Van Deerlin, V.M. (eds) Molecular Pathology in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-0-387-33227-7_11

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