Vestibular Deterioration Precedes Hearing Deterioration in the P51S COCH Mutation (DFNA9): An Analysis in 74 Mutation Carriers

Bischoff, Anne M. L. C.; Huygen, P.L.M.; Kemperman, Martijn H; Pennings, Ronald J.E.; Bom, S. J. H.; Verhagen, W. I. M.; Admiraal, R.J.C.; Kremer, Hannie; Cremers, C.W.R.J.

doi:10.1097/01.mao.0000185048.84641.e3

Cited by 43 publications

(71 citation statements)

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“…Progression of hearing impairment starts from about 40 years of age onwards and vestibular deterioration appears to start about 9 years earlier and progresses more rapidly than hearing impairment [Bischoff et al, 2005]. Recently, Kemperman and colleagues reported on a Dutch DFNA9 family with the G88E mutation, previously reported to occur in a family originating from the United States of America [Khetarpal et al, 1991[Khetarpal et al, , 1993Robertson et al, 1998].…”

Section: Discussionmentioning

confidence: 99%

“…For comparison, the sigmoidal curves previously fitted to the data of G88E and P51S mutation carriers [Bischoff et al, 2005;Kemperman et al, 2005] are included in figure 2 , showing that the development of hearing impairment in the present G87W mutation carriers resembles that in the G88E and P51S mutation carriers. For the G88E mutation carriers a distinct tendency to show later onset ages and/or relatively more limited impairment in the high frequency range at the more advanced ages can be noticed.…”

Section: Audiometrymentioning

confidence: 99%

“…Similar to the previously reported analysis of the P51S COCH mutation carriers [Bischoff et al, 2005], cross-sectional binaurally averaged threshold data (air conduction level in decibels of hearing loss) were plotted against age for each frequency and analyzed using nonlinear regression analysis (threshold on age). An attempt was made to fit a sigmoidal response curve with a variable slope (Prism 3, GraphPad, San Diego, Calif., USA) as previously described .…”

Section: Audiometry and Data Analysismentioning

confidence: 99%

“…Apart from DFNA11, DFNA9 is the only DFNA locus known to exhibit substantial concomitant vestibular impairment. Vestibular dysfunction develops gradually and may eventually lead to vestibular areflexia [Bischoff et al, 2005]. Ménière-like vertigo is not unusual [Lemaire et al, 2003;Verhagen et al, 2001].…”

Section: Introductionmentioning

confidence: 99%

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Clinical Characteristics of a Dutch DFNA9 Family with a Novel <i>COCH</i> Mutation, G87W

Pauw¹,

Collin²,

Huygen³

et al. 2006

Audiol Neurotol

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The present study aims to report audiological and vestibular characteristics of a Dutch DFNA9 family with a novel mutation, G87W, in the LCCL domain of COCH. From the family with the novel G87W COCH mutation audiometric data were collected and analyzed longitudinally. Results were compared with those obtained in previously identified P51S COCH mutation carriers (n = 74) and with those obtained in G88E mutation carriers. Special attention was also given to a comparison of age-related features, such as progressive hearing loss and vestibular impairment. A novel mutation (G87W) in COCH is indicative of hearing impairment and vestibular dysfunction in the present family. Pure-tone thresholds, phoneme recognition scores, and vestibular responses of the G87W mutation carriers were essentially similar to those previously established in the P51S and G88E mutation carriers. Deterioration of hearing and vestibular function in the G87W mutation carriers started at the age of 43 years. Remarkably, similar to G88E mutation carriers, the proportion of patients over 40 years of age who developed complete vestibular areflexia was significantly lower for the G87W mutation carriers than for the P51S mutation carriers. In conclusion, the phenotype associated with the novel COCH (G87W) mutation is largely similar to that associated with the P51S and G88E mutation carriers. However, subtle differences in terms of onset age and rate of progression seem to exist.

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Section: Discussionmentioning

confidence: 99%

Section: Audiometrymentioning

confidence: 99%

Section: Audiometry and Data Analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Clinical Characteristics of a Dutch DFNA9 Family with a Novel <i>COCH</i> Mutation, G87W

Pauw¹,

Collin²,

Huygen³

et al. 2006

Audiol Neurotol

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“…To date, 12 mutations within the COCH gene which result in DFNA9 have been described (Robertson et al 2008). The clinical manifestations of DFNA9 include adult-onset progressive sensorineural hearing loss beginning between ages 20 and 50 with progression to anacusis, and vestibular dysfunction accompanying the hearing loss in some individuals (Robertson et al 1998;Khetarpal 2000;Bischoff et al 2005). The prevalence of DFNA9 is unknown as systematic genetic testing on the adultonset sensorineural hearing loss population has not been performed; however, the disease has been detected in multiple families across four continents (Robertson et al 2006).…”

Section: Introductionmentioning

confidence: 99%

Extralabyrinthine Manifestations of DFNA9

McCall

Linthicum

O’Malley

et al. 2010

JARO

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DFNA9 is an autosomal dominant cause of nonsyndromic adult-onset sensorineural hearing loss with associated variable vestibular dysfunction caused by mutations in the COCH gene. DFNA9 has previously been characterized by the presence of unique histopathologic features limited to the cochlear and vestibular labyrinth. This report describes newly discovered extralabyrinthine findings within the middle ear in DFNA9 and discusses their implications. The histopathologic anatomy of extralabyrinthine structures was reviewed in 12 temporal bones from seven individuals with DFNA9 and compared with agematched controls. All temporal bones with DFNA9 had abnormal deposits within the tympanic membrane, incudomalleal joint, and incudostapedial joint. Hematoxylin and eosin stain and Movat's pentachrome stain both revealed different staining patterns of the extralabyrinthine deposits compared with the intralabyrinthine deposits suggesting that the composition of the deposits varies with location. The deposits within the tympanic membrane resembled cartilage morphologically and stained positively for aggrecan, an extracellular matrix protein found in cartilage. However, the cellular component of the tympanic membrane deposits did not stain with immunomarkers for chondrocytes (s100 and connective tissue growth factor). These novel findings in DFNA9 have implications for the phenotypic expression of the disorder and the clinical workup of adult-onset sensorineural hearing loss.

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Audiometric Characteristics of a Dutch Family Linked to DFNA15 With a Novel Mutation (p.L289F) in POU4F3

Pauw¹,

Drunen²,

Collin³

et al. 2008

Arch Otolaryngol Head Neck Surg

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To report on the audiometric characteristics of a large Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3 (OMIM 602460). Design: Clinical investigation. Setting: Tertiary referral center. Patients: Family members from a large 5-generation pedigree with sensorineural hearing impairment segregating as an autosomal dominant trait. Main Outcome Measures: Cross-sectional and longitudinal analyses of pure-tone audiometric data, and cross-sectional analyses of speech audiometry data. Results: Overall, a flat to gently downsloping audiometric configuration was observed with a progression rate of approximately 0.8 dB/y across most frequencies. Speech recognition scores remained fairly good in relation to age and hearing level compared with a group of patients with presbycusis. Interindividual variability was observed in terms of subjective onset age and audiometric configuration. Two mutation carriers, who reported vestibular symptoms, underwent vestibular examination and showed hypofunction of the vestibular labyrinth. Conclusions: The audiometric phenotype of the Dutch family linked to DFNA15 with a novel mutation in POU4F3 is comparable to that observed in the original Israeli family linked to DFNA15. Relatively good speech recognition scores suggest outer hair cell involvement. DFNA15 may represent a cochleovestibular disorder.

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Vestibular Deterioration Precedes Hearing Deterioration in the P51S COCH Mutation (DFNA9): An Analysis in 74 Mutation Carriers

Abstract: Vestibular impairment starts earlier, progresses more rapidly, and, eventually, is more complete than hearing impairment in P51S COCH mutation carriers.

Cited by 43 publications

References 24 publications

Clinical Characteristics of a Dutch DFNA9 Family with a Novel <i>COCH</i> Mutation, G87W

Clinical Characteristics of a Dutch DFNA9 Family with a Novel <i>COCH</i> Mutation, G87W

Extralabyrinthine Manifestations of DFNA9

Audiometric Characteristics of a Dutch Family Linked to DFNA15 With a Novel Mutation (p.L289F) in POU4F3

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