2004
DOI: 10.1177/000348940411301112
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Audiological Characteristics of Some Affected Members of a Dutch DFNA13/COL11A2 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,… Show more

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Cited by 24 publications
(50 citation statements)
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“…The preservation of stimulus fine structure at higher levels is also found in conductive middle ear hearing impairment. This supports the conclusion of De Leenheer et al (2004) that a conductive cochlear type of hearing impairment occurs in tectorial membrane dysfunction.…”
Section: Discussionsupporting
confidence: 90%
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“…The preservation of stimulus fine structure at higher levels is also found in conductive middle ear hearing impairment. This supports the conclusion of De Leenheer et al (2004) that a conductive cochlear type of hearing impairment occurs in tectorial membrane dysfunction.…”
Section: Discussionsupporting
confidence: 90%
“…The test results of our subjects are quite similar to the results in subjects with DFNA13 (COL11A2) (De Leenheer et al 2004). Mice with a targeted disruption of COL11A2 exhibit a loss of organization of the collagen fibrils present in the tectorial membrane, causing pathological alteration in the structure of the tectorial membrane that reduces efficacy of the outer hair cells, resulting in congenital hearing impairment that varies in degree from mild to moderately severe (McGuirt et al 1999).…”
Section: Discussionsupporting
confidence: 83%
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