Autosomal-Dominant Progressive Sensorineural Hearing Loss in a Large North American Family Forty-nine members of a family with autosomal-dominant progressive sensorineural hearing loss were evaluated by audiologists, otologists, and geneticists. The results presented here show a nonsyndromic, autosomal-dominant mutation causing progressive sensorineural hearing loss beginning at about age 20 and becoming profound by approximately age 45. Because of the unambiguous nature of ... Research Article
Research Article  |   March 01, 1996
Autosomal-Dominant Progressive Sensorineural Hearing Loss in a Large North American Family
 
Author Affiliations & Notes
  • Chris Halpin
    Audiology, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston MA 02114
  • Umang Khetarpal
    Harvard Medical School, Cambridge, MA
  • Michael McKenna
    Audiology, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston MA 02114
Article Information
Hearing Disorders / Research Articles
Research Article   |   March 01, 1996
Autosomal-Dominant Progressive Sensorineural Hearing Loss in a Large North American Family
American Journal of Audiology, March 1996, Vol. 5, 105-111. doi:10.1044/1059-0889.0501.105
History: Received August 11, 1994 , Accepted March 17, 1995
 
American Journal of Audiology, March 1996, Vol. 5, 105-111. doi:10.1044/1059-0889.0501.105
History: Received August 11, 1994; Accepted March 17, 1995

Forty-nine members of a family with autosomal-dominant progressive sensorineural hearing loss were evaluated by audiologists, otologists, and geneticists. The results presented here show a nonsyndromic, autosomal-dominant mutation causing progressive sensorineural hearing loss beginning at about age 20 and becoming profound by approximately age 45. Because of the unambiguous nature of the hearing loss, the size of the family, and the availability of two previously described temporal bones from family members, a fairly complete description of the nature and impact of this mutation will be presented.

Acknowledgments
The authors would like to acknowledge the contribution of the following audiologists in the evaluation of these patients: Ellen O’Neil, Ann-Marie Hennessey, Margaret Whearty, and Geoffrey Duyk. The authors would like to thank Harold Schuknecht, Saumil Merchant, and colleagues at the Massachusetts Eye and Ear Infirmary Temporal Bone Laboratory (NIH grant: DC-0007928) for the use of the photomicrograph in Figure 5.
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