Oculomotor, Auditory, and Vestibular Responses in Myotonic Dystrophy

Verhagen, W. I. M.; Bruggen, J.P. ter; Huygen, P.L.M.

doi:10.1001/archneur.1992.00530330078020

Cited by 52 publications

(29 citation statements)

References 33 publications

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“…Vestibuloocular responses were evaluated in four patients (aged 23, 39, 43, and 45 years) by using electronystagmography (in the dark with open eyes) with computer analysis as previously described (Verhagen et al 1992). The horizontal vestibuloocular reflex (VOR) was evaluated by performing velocity-step tests at 90 -/s.…”

Section: Vestibuloocular Examinationmentioning

confidence: 99%

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

Plantinga

Brouwer

Huygen

et al. 2006

JARO

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A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. In early life, presumably congenital, hearing impairment occurred in the midfrequency range, amounting to about 40 dB at 1 kHz. Speech recognition was good with all phoneme recognition scores exceeding 90%. An intact horizontal vestibuloocular reflex was found in four tested patients. The missense mutation is located in the zona pellucida (ZP) domain of a-tectorin. Mutations affecting the ZP domain of a-tectorin are significantly associated with midfrequency hearing impairment. Substitutions affecting other amino acid residues than cysteines show a significant association with hearing impairment without progression. Indeed, in the present family progression seemed to be absent. In addition, the presently identified mutation affecting the ZP domain resulted in a substantially lesser degree of hearing impairment than was previously reported for DFNA8/12 traits with mutations affecting the ZP domain of a-tectorin.

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Section: Vestibuloocular Examinationmentioning

confidence: 99%

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

Plantinga

Brouwer

Huygen

et al. 2006

JARO

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“…15 Because it is thought that this type of autosomal domi nant nonsyndromal inherited hearing loss is of monoge ne tic origin, karyotypes were not performed.…”

Section: Auditory Systemmentioning

confidence: 99%

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

Marres¹,

Ewijk²,

Huygen³

et al. 1997

Archives of Otolaryngology - Head and Neck Surgery

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“…Three candidate ESTs (N66534, N64583, H88351) in the subtracted cDNA-library are assigned to the affected DFNA-region described by Chen et al 9 Mutation in any of these three potential genes could be responsible for hearing deficit in the American family. Based on two reports about association of auditory abnormalities with myotonic dystrophy, 15,16 Chen et al 9 assumed the possible involvement of the DM-kinase gene in developing of DFNA4, a fact yet needing proof of DM-kinase expression in the inner ear.…”

Section: European Journal Of Human Geneticsmentioning

confidence: 99%

Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation

et al. 2002

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Until now, over 30 loci have been identified by linkage analysis of affected families that segregate nonsyndromic and dominantly inherited forms of hearing impairment (DFNA). A German family with a nonsyndromic progressive hearing impairment transmitted in autosomal dominant mode was linked to 19q13.3-q13.4 by a genome-wide scan. Due to the low lod-score (1.85 at y=0.05) for APOC2-locus we extended the fine mapping attempt with further markers in the same chromosomal region. This resulted in significant evidence for linkage to the markers D19S246 and D19S553 (two-point lod-score of 4.05 and 3.55 at y=0.0) and a candidate critical region of 14 cM between markers D19S412 and D19S571. This region shows partial overlap with the previously reported DFNA4 critical region. The human gene BAX is orthologous to the rodent Bcl2-related apoptosis gene that is temporally expressed during the postnatal period in the developing inner ear of the mouse. BAX, mapping at a distance of no more than 0.73 cM distally to marker D19S553 appeared a likely candidate in our pedigree but genomic sequencing of coding regions and exon/intron boundaries excluded disease-related mutations. However, additional ESTs in the same region remain to be tested.

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Oculomotor, Auditory, and Vestibular Responses in Myotonic Dystrophy

Cited by 52 publications

References 33 publications

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

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

Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation

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