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Genetics of Auditory Disorders pp 45–66Cite as

Mapping and Cloning of Genes for Inherited Hearing Impairment

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Part of the book series: Springer Handbook of Auditory Research ((SHAR,volume 14))

10. Summary

Over the past six years, linkage studies of families with autosomal dominant, autosomal recessive and X-linked syndromic and nonsyndromic sensorineural hearing impairment have resulted in mapping of 30 autosomal dominant, 28 autosomal recessive and 5 X-linked loci for nonsyndromic hearing impairment. Physical mapping and the use of a variety of cloning approaches over the same time period have led to the identification of 18 of these genes. Further progress in the mapping and cloning of genes for inherited hearing impairment can only accelerate in the future.

There is an urgent need to document in detail the phenotypic features in persons with inherited hearing impairment, and to correlate them with the genotypic findings, both the particular gene involved and the specific mutation responsible. In addition to the audiological findings (severity of hearing impairment, age of onset, progression, audiological configuration, etc.), the description of the phenotype should include documentation of the presence or absence of associated vestibular abnormalities, and/or neuroradiological findings in the inner ear. By this means, the results of the research findings will rapidly translate into the development of directed and appropriate mutation testing, not only for individuals with or at risk for inherited hearing impairment, but also for the most common scenario, namely the sporadic child with nonsyndromic sensorineural hearing impairment, for whom limited diagnostic tests are available.

The identification of the normal function of the products of the genes responsible for inherited hearing impairment will help us understand how mutations in them result in hearing impairment, as well as identifying environmental factors that cause hearing impairment, with the prospect, in time, of therapeutic intervention.

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Authors
  1. Robert F. Mueller
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  2. Guy Van Camp
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  3. Nick J. Lench
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Editor information

Editors and Affiliations

  1. Department of Biometry and Genetics, Louisiana State University, New Orleans, LA, 70112, USA

    Bronya J. B. Keats

  2. Department of Psychology and Parmly Hearing Institute, Loyola University of Chicago, Chicago, IL, 60626, USA

    Richard R. Fay

  3. Department of Biology and Neuroscience and Cognitive Science Program, University of Maryland, College Park, MD, 20742-4415, USA

    Arthur N. Popper

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© 2002 Springer-Verlag New York, Inc.

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Mueller, R.F., Van Camp, G., Lench, N.J. (2002). Mapping and Cloning of Genes for Inherited Hearing Impairment. In: Keats, B.J.B., Fay, R.R., Popper, A.N. (eds) Genetics of Auditory Disorders. Springer Handbook of Auditory Research, vol 14. Springer, New York, NY. https://doi.org/10.1007/0-387-21853-X_3

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  • DOI: https://doi.org/10.1007/0-387-21853-X_3

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