TY - JOUR
T1 - Subclinical audiological findings in carriers of recessive genes for deafness
AU - Berlin, M.
AU - Muchnik, C.
AU - Hildesheimer, M.
AU - Legum, C.
AU - Muchnik, C.
AU - Hildesheimer, M.
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
KW - auditory dysfunction
KW - heterozygote
UR - http://www.scopus.com/inward/record.url?scp=0032881848&partnerID=8YFLogxK
U2 - 10.1515/JBCPP.1999.10.3.201
DO - 10.1515/JBCPP.1999.10.3.201
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AN - SCOPUS:0032881848
SN - 0792-6855
VL - 10
SP - 201
EP - 208
JO - Journal of Basic and Clinical Physiology and Pharmacology
JF - Journal of Basic and Clinical Physiology and Pharmacology
IS - 3
ER -