Subclinical audiological findings in carriers of recessive genes for deafness

M. Berlin, C. Muchnik, M. Hildesheimer*, C. Legum, C. Muchnik, M. Hildesheimer*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


The existence of subclinical signs in the hearing of carriers of recessive mutations for deafness has aroused much controversy in the literature. The present study comprised 30 carriers of recessive mutations for deafness, and a control group of 30 healthy volunteers, matched for gender and age. All participants underwent a series of hearing tests, including pure-tone audiometry, speech tests, Bekesy audiometry and notch noise tests. The main results were: hearing loss in high frequencies (3000 and 4000 Hz), an elevation of the acoustic reflex threshold, as well as an elevation of the identification of 2000 Hz pure tone in the presence of white noise and notch noise. A notch in the Bekesy audiogram was also identified in several carriers. An interaction was found between gender and the carrier trait in the hearing threshold at 4000 Hz, and in the ipsi- and contralateral acoustic reflex at 500 Hz and 1000 Hz. These subclinical signs may be complementary to DNA research in the investigation of genetic deafness of unknown origin.

Original languageEnglish
Pages (from-to)201-208
Number of pages8
JournalJournal of Basic and Clinical Physiology and Pharmacology
Issue number3
StatePublished - 1999
Externally publishedYes


  • auditory dysfunction
  • heterozygote


Dive into the research topics of 'Subclinical audiological findings in carriers of recessive genes for deafness'. Together they form a unique fingerprint.

Cite this