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Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).
- Source :
-
Hearing research [Hear Res] 2012 Sep; Vol. 291 (1-2), pp. 15-23. Date of Electronic Publication: 2012 Jul 14. - Publication Year :
- 2012
-
Abstract
- Objective: To evaluate hearing impairment and cochlear function in non-ocular Stickler syndrome.<br />Study Design: Multifamily study.<br />Patients & Methods: Ten patients from two different families with non-ocular Stickler syndrome (Stickler syndrome type 3) were included. Six members of the first family and four members of the second family participated in this study. Otorhinolaryngologic examinations were performed. Pure-tone and speech audiograms were obtained. Longitudinal analysis was performed. Psychophysical measurements, including loudness scaling, gap detection, difference limen for frequency and speech perception in noise were administered to assess cochlear function at a deeper level.<br />Results: Affected individuals in the first family were carriers of a heterozygous splice donor mutation in the COL11A2 gene. Affected individuals in the second family were carriers of a novel heterozygous missense mutation in COL11A2. Both families showed bilateral, non-progressive hearing impairment with childhood onset. The severity of the hearing impairment exhibited inter- and intrafamilial variability and was mostly mild to moderate. The results of the psychophysical measurements were similar to those previously published for DFNA8/12 (TECTA) and DFNA13 (COL11A2) patients and thus consistent with an intra-cochlear conductive hearing impairment. This is in line with the theory that mutations in COL11A2 affect tectorial membrane function.<br />Conclusion: Hearing impairment in non-ocular Stickler syndrome is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity. Psychophysical measurements in non-ocular Stickler patients were suggestive of intra-cochlear conductive hearing impairment.<br /> (Copyright © 2012 Elsevier B.V. All rights reserved.)
- Subjects :
- Arthritis psychology
Audiometry, Pure-Tone
Audiometry, Speech
Connective Tissue Diseases psychology
Female
Gene Expression
Hearing Loss, Conductive psychology
Heterozygote
Humans
Male
Netherlands
Pedigree
Phenotype
Psychoacoustics
Tectorial Membrane physiopathology
Arthritis genetics
Arthritis physiopathology
Collagen Type XI genetics
Connective Tissue Diseases genetics
Connective Tissue Diseases physiopathology
Hearing Loss, Conductive genetics
Hearing Loss, Conductive physiopathology
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1878-5891
- Volume :
- 291
- Issue :
- 1-2
- Database :
- MEDLINE
- Journal :
- Hearing research
- Publication Type :
- Academic Journal
- Accession number :
- 22796475
- Full Text :
- https://doi.org/10.1016/j.heares.2012.07.001