Document Detail

Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family.
MedLine Citation:
PMID:  15562903     Owner:  NLM     Status:  MEDLINE    
Members of a Dutch DFNA13/COL11A2 family were evaluated with pure tone audiometry, stapedial reflexes, otoacoustic emissions, loudness scaling, difference limen for frequency, gap detection, and speech perception in quiet and noise. The tone audiometry showed a predominant loss for the low and middle frequencies, with only a few otoacoustic emissions at thresholds better than 25 dB hearing level. The stapedial reflexes appeared elevated, and loudness growth curves were shifted parallel to those for normal-hearing subjects, indicating a shift of the dynamic range toward higher presentation levels. The data for the difference limen for frequency, gap detection, and speech perception in noise fell within the (near-)normal range. Despite elevated thresholds, all suprathreshold functions showed fairly normal properties, suggesting an attenuation of signal energy in the cochlea with limited degradation of the cochlea's signal analyzing capabilities. The effect of DFNA13/COL11A2 may thus be characterized as a cochlear conductive loss.
Els M R De Leenheer; Arjan J Bosman; Hendrik P M Kunst; Patrick L M Huygen; Cor W R J Cremers
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Annals of otology, rhinology, and laryngology     Volume:  113     ISSN:  0003-4894     ISO Abbreviation:  Ann. Otol. Rhinol. Laryngol.     Publication Date:  2004 Nov 
Date Detail:
Created Date:  2004-11-25     Completed Date:  2004-12-21     Revised Date:  2006-05-15    
Medline Journal Info:
Nlm Unique ID:  0407300     Medline TA:  Ann Otol Rhinol Laryngol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  922-9     Citation Subset:  AIM; IM    
Department of Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, The Netherlands.
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MeSH Terms
Audiometry, Pure-Tone
Auditory Threshold / physiology
Hearing / genetics,  physiology*
Hearing Loss, Sensorineural / genetics*,  physiopathology*
Otoacoustic Emissions, Spontaneous
Proteins / genetics
Speech Perception / physiology
Stapes / physiopathology
Reg. No./Substance:

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