Inherited Nonsyndromic Hearing Loss: An Audiovestibular Study in a Large Family With Autosomal Dominant Progressive Hearing Loss Related to DFNA2

Marres, H.A.M.; Ewijk, M. van; Huygen, P.L.M.; Kunst, Henricus P. M.; Camp, Guy Van; Coucke, Paul; Willems, P. J.; Cremers, C.W.R.J.

doi:10.1001/archotol.1997.01900060015002

Cited by 39 publications

(32 citation statements)

References 15 publications

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“…Saccades, smooth-pursuit eye movements and optokinetic nystagmus responses were evaluated, as well as gaze-evoked and spontaneous nystagmus. Vestibular stimulation included velocity steps of 90°/s and caloric tests, as described previously [Marres et al, 1997;Verhagen et al, 1992]. One of the affected individuals (VII:9) also underwent vestibular examination elsewhere, which included caloric testing and sinusoidal rotation at 0.1 Hz and 50°/s maximum velocity.…”

Section: Vestibular Examination and Data Analysismentioning

confidence: 99%

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

Heer¹,

Collin

Huygen³

et al. 2010

Audiol Neurotol

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In a Dutch family with autosomal recessive hearing loss, genome-wide single-nucleotide polymorphism analysis mapped the genetic defect to the DFNB7/11 locus. A novel homozygous A-to-G change in the TMC1 gene was detected near the splice donor site of intron 19 (c.1763+3A→G) segregating with the hearing loss in this family. One of the 6 transmembrane domains and the actual TMC channel domain are predicted to be absent in the mutant protein. The sensorineural hearing impairment in this DFNB7/11 family has a postlingual onset. Audiometric analysis initially showed a steeply downward-sloping threshold configuration. The progressive phenotype in this family resembles the phenotype previously described for families with dominant TMC1 mutations (DFNA36) rather than that of families with recessive TMC1 mutations (DFNB7/11) which invariably cause severe-to-profound prelingual hearing impairment.

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Section: Vestibular Examination and Data Analysismentioning

confidence: 99%

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

Heer¹,

Collin

Huygen³

et al. 2010

Audiol Neurotol

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“…DFNA2 is characterized by a slowly progressing hearing loss that develops from high to low frequencies and finally leads to severe deafness (Marres et al, 1997;De Leenheer et al, 2002). On the basis of the strong expression of KCNQ4 in the basolateral membrane of OHCs, it was hypothesized that hearing loss in DFNA2 may be caused by a defect in OHC K ϩ homeostasis.…”

Section: Ihcs and Dfna2mentioning

confidence: 99%

“…Accordingly, the loss of OHCs or OHC function is known to result in an increased hearing threshold of at most 40 -50 dB (Ryan and Dallos, 1975) but not in the severe hearing loss observed in DFNA2 patients (Marres et al, 1997;De Leenheer et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

Resting Potential and Submembrane Calcium Concentration of Inner Hair Cells in the Isolated Mouse Cochlea Are Set by KCNQ-Type Potassium Channels

Knipper²,

et al. 2003

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“…When hearing impairment was detected, speech audiometry was performed by presenting a standard monosyllabic Dutch word list at either ear and analyzed as previously described . Two patients from family WF3 (II:5 and II:6) underwent brainstem evoked response audiometry (BERA) following normal standards and 6 patients (WF3, II:5 and II:6; WF6, II:1; WF2, II:2; WF10, II:2 and II:3) underwent vestibular examination with a rotatory chair and electronystagmography as previously described [Marres et al, 1997].…”

Section: Audiovestibular Evaluationmentioning

confidence: 99%

Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations

et al. 2003

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This study examined the audiovestibular profile of 11 Wolfram syndrome patients (4 males, 7 females) from 7 families, with identified WFS1 mutations, and the audiometric profile of 17 related heterozygous carriers of WFS1 mutations. Patients with Wolfram syndrome showed a downsloping audiogram and progressive hearing impairment. None of the carriers had sensorineural hearing loss. Two patients with missense (non-inactivating) mutations in WFS1 had normal hearing and mild symptoms of Wolfram syndrome and were excluded from the analyses. Of the identified patients with inactivating WFS1 mutations, 5 female patients were significantly more hearing impaired than four male patients (p < 0.05). Female patients showed hearing impairment progressing by 1.5–2.0 dB HL per year for the low frequencies and 4.0–4.5 dB HL per year for the mid and high frequencies. The age of onset (90% phoneme recognition score) was 21 years and the onset level 78 dB HL. The deterioration rate was 4.0% per year and the deterioration gradient 1.4% per dB HL. One of the 6 examined patients had vestibular areflexia.

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Inherited Nonsyndromic Hearing Loss: An Audiovestibular Study in a Large Family With Autosomal Dominant Progressive Hearing Loss Related to DFNA2

Cited by 39 publications

References 15 publications

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in <i>TMC1</i>

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in <i>TMC1</i>

Resting Potential and Submembrane Calcium Concentration of Inner Hair Cells in the Isolated Mouse Cochlea Are Set by KCNQ-Type Potassium Channels

Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating <i>WFS1</i> Mutations

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