title: Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family.
abstract: In DFNA8/12, an autosomal dominantly inherited type of nonsyndromic hearing impairment, the TECTA gene mutation causes a defect in the structure of the tectorial membrane in the inner ear. Because DFNA8/12 affects the tectorial membrane, patients with DFNA8/12 may show specific audiometric characteristics. In this study, five selected members of a Dutch DFNA8/12 family with a TECTA sensorineural hearing impairment were evaluated with pure-tone audiometry, loudness scaling, speech perception in quiet and noise, difference limen for frequency, acoustic reflexes, otoacoustic emissions, and gap detection. Four out of five subjects showed an elevation of pure-tone thresholds, acoustic reflex thresholds, and loudness discomfort levels. Loudness growth curves are parallel to those found in normal-hearing individuals. Suprathreshold measures such as difference limen for frequency modulated pure tones, gap detection, and particularly speech perception in noise are within the normal range. Distortion otoacoustic emissions are present at the higher stimulus level. These results are similar to those previously obtained from a Dutch DFNA13 family with midfrequency sensorineural hearing impairment. It seems that a defect in the tectorial membrane results primarily in an attenuation of sound, whereas suprathreshold measures, such as otoacoustic emissions and speech perception in noise, are preserved rather well. The main effect of the defects is a shift in the operation point of the outer hair cells with near intact functioning at high levels. As most test results reflect those found in middle-ear conductive loss in both families, the sensorineural hearing impairment may be characterized as a cochlear conductive hearing impairment.
authors.affiliation: Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Rutger F
authors.initials: RF
authors.lastname: Plantinga
authors.forename: Cor W R J
authors.initials: CW
authors.lastname: Cremers
authors.forename: Patrick L M
authors.initials: PL
authors.lastname: Huygen
authors.forename: Henricus P M
authors.initials: HP
authors.lastname: Kunst
authors.forename: Arjan J
authors.initials: AJ
authors.lastname: Bosman
mesh_terms: D000328:Adult; D001301:Audiometry, Pure-Tone; D001302:Audiometry, Speech; D001309:Auditory Threshold; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D058851:GPI-Linked Proteins; D018072:Hair Cells, Auditory, Outer / Q000502:physiology; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009426:Netherlands; D017084:Otoacoustic Emissions, Spontaneous; D010375:Pedigree; D011601:Psychophysics; D013067:Speech Perception
chemical_list: D016326:Extracellular Matrix Proteins; D058851:GPI-Linked Proteins; D008562:Membrane Glycoproteins; C491350:TECTA protein, human