Carriers of the Usher syndrome type IB

Is audiometric identification possible?

M. Wagenaar, A. F.M. Snik, William J Kimberling, C. W.R.J. Cremers

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Some studies in the past have shown that carriers of genes for recessive deafness cannot be identified by standard audiometry. However, remarkable results with regard to the identification of heterozygotes have been reported using Bekesy audiometry and Audioscan audiometry. In the present study, nine obligate carriers from five families with the Usher syndrome type IB were examined. Methods that reflect the function of the cochlea, including pure-tone audiometry, Audioscan audiometry, and otoacoustic emission measurements were used to detect (subtle) audiometric manifestations of heterozygosity. Abnormalities in hearing sensitivity were found in some obligate carriers but to the same extent in some of the controls. No statistically significant differences were found in the presence of audiometric abnormalities between carriers and controls. Additional audiologic measurements indicated that if hearing loss was present in Usher type IB carriers, it was presumably of cochlear origin. It is concluded that carriers of the Usher syndrome type IB cannot be identified properly via standard audiometric methods.

Original languageEnglish (US)
Pages (from-to)853-858
Number of pages6
JournalAmerican Journal of Otology
Volume17
Issue number6
StatePublished - Nov 1 1996

Fingerprint

Usher Syndromes
Audiometry
Pure-Tone Audiometry
Cochlea
Recessive Genes
Deafness
Heterozygote
Hearing Loss
Hearing

Keywords

  • Audiometric identification
  • Usher syndrome type IB

ASJC Scopus subject areas

  • Otorhinolaryngology

Cite this

Wagenaar, M., Snik, A. F. M., Kimberling, W. J., & Cremers, C. W. R. J. (1996). Carriers of the Usher syndrome type IB: Is audiometric identification possible? American Journal of Otology, 17(6), 853-858.

Carriers of the Usher syndrome type IB : Is audiometric identification possible? / Wagenaar, M.; Snik, A. F.M.; Kimberling, William J; Cremers, C. W.R.J.

In: American Journal of Otology, Vol. 17, No. 6, 01.11.1996, p. 853-858.

Research output: Contribution to journalArticle

Wagenaar, M, Snik, AFM, Kimberling, WJ & Cremers, CWRJ 1996, 'Carriers of the Usher syndrome type IB: Is audiometric identification possible?', American Journal of Otology, vol. 17, no. 6, pp. 853-858.
Wagenaar M, Snik AFM, Kimberling WJ, Cremers CWRJ. Carriers of the Usher syndrome type IB: Is audiometric identification possible? American Journal of Otology. 1996 Nov 1;17(6):853-858.
Wagenaar, M. ; Snik, A. F.M. ; Kimberling, William J ; Cremers, C. W.R.J. / Carriers of the Usher syndrome type IB : Is audiometric identification possible?. In: American Journal of Otology. 1996 ; Vol. 17, No. 6. pp. 853-858.
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