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Title
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Phenotype of the first otosclerosis family linked to OTSC10
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Author
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Abstract
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| Objectives: To report on the audiometric findings in the first otosclerosis family linked to OTSC10. Study Design: Retrospective cohort study. Methods: A family study in a large otosclerosis family was performed, and a pedigree was constructed. Examination of all family members consisted of medical history guided by a questionnaire, pure-tone audiometry, otoscopy, and collection of blood samples for genetic linkage analysis. In addition, a selected group underwent stapedial reflex measurements and tympanometry. Cross-sectional as well as longitudinal analyses of audiometric data were performed. Results: Eleven family members were identified as clinically affected and were all carriers of the disease haplotype. Twelve clinically unaffected family members carried the disease haplotype as well. Cross-sectional analyses of clinically affected family members showed no significant progression of air conduction (AC) thresholds, bone conduction (BC) thresholds, and air-bone gap (ABG) levels with increasing age. Longitudinal regression analyses in one family member revealed significant deterioration of AC thresholds at all frequencies. The BC thresholds showed a significant increase with advancing age at 0.5 kHz, 2 kHz, and 4 kHz. A significant progression of ABG was seen at 8 kHz. Conclusions: The intersubject variation, in terms of age of onset, level of progression, and audiogram configuration, was remarkable, probably due to reduced penetrance and variable expression of the disease. Long-term audiometric data in one patient, however, were useful to demonstrate progression of hearing impairment. |
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Language
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English
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Source (journal)
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The laryngoscope / American Laryngological, Rhinological and Otological Society. - St.Louis, Mo., 1896, currens
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Publication
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St.Louis, Mo.
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2011
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ISSN
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0023-852X
[print]
1531-4995
[online]
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DOI
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10.1002/LARY.21463
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Volume/pages
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121
:4
(2011)
, p. 838-845
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ISI
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000288817900026
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Full text (Publisher's DOI)
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