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Phenotype of the first otosclerosis family linked to OTSC10
Author(s) -
Weegerink Nicole J.D.,
Schrauwen Isabelle,
Huygen Patrick L.M.,
Pennings Ronald J.E.,
Cremers Cor W.R.J.,
Van Camp Guy,
Kunst Henricus P.M.
Publication year - 2011
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1002/lary.21463
Subject(s) - otosclerosis , medicine , penetrance , audiometry , tympanometry , bone conduction , audiogram , acoustic reflex , family history , audiology , hearing loss , pure tone audiometry , genetics , phenotype , biology , gene
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. Laryngoscope, 2011