Progressive Late-Onset Sensorineural Hearing Loss and Vestibular Impairment with Vertigo (DFNA9/COCH): Longitudinal Analyses in a Belgian Family

Lemaire, F. X.; Feenstra, Louw; Huygen, P.L.M.; Fransén, Erik; Devriendt, Koenraad; Camp, Guy Van; Vantrappen, G.; Cremers, C.W.R.J.; Wackym, P. Ashley; Koss, John C

doi:10.1097/00129492-200309000-00009

Cited by 31 publications

(28 citation statements)

References 16 publications

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“…Recent studies suggest that the COCH gene, HLA class I and II antigens, and antiquitin might be among the genetic factors contributing to familial and sporadic MD [12][13][14] . Analysis of candidate genes to reveal the genetic bases for MD has just been initiated and future studies should identify novel mutations/polymorphisms in several candidate genes for both the sporadic and inherited forms of MD, which might lead to a more precise understanding of genotype-phenotype correlations in MD.…”

Section: Discussionmentioning

confidence: 99%

Ménière’s Disease Is Associated with Single Nucleotide Polymorphisms in the Human Potassium Channel Genes, KCNE1 and KCNE3

Doi

Sato

Kuramasu

et al. 2005

ORL

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Although the bases for both the sporadic and inherited forms of Ménière’s disease (MD) remain undefined, it is likely to be multifactorial, one of the factors being a genetic predisposition. Recently, genetic association studies on complex diseases have become very popular and most of them are case-control studies using single nucleotide polymorphisms (SNPs) as markers. Mutations/polymorphisms in KCNE potassium channel genes might play a causative role in MD, because KCNE potassium channels have been suggested to be present and active in transmembrane ion and water transports in the inner ear. In the present study, to identify MD susceptibility genes, we have conducted a genetic association study with optimized sampling, optimized phenotyping/genotyping, and a selection of KCNE genes as the candidate genes. The SNPs analyses identified 112G/A SNP in the KCNE1 gene and 198T/C SNP in the KCNE3 gene in 63 definite MD cases as well as 205 and 237 non-MD control subjects. For both KCNE1 and KCNE3 genes, a significant difference in frequency of each SNP was confirmed between MD cases and non-MD control subjects. The result indicates that 112G/A SNP in the KCNE1 gene and 198T/C SNP in the KCNE3 gene could determine an increased susceptibility to develop MD.

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Section: Discussionmentioning

confidence: 99%

Ménière’s Disease Is Associated with Single Nucleotide Polymorphisms in the Human Potassium Channel Genes, KCNE1 and KCNE3

Doi

Sato

Kuramasu

et al. 2005

ORL

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“…Patients with DFNA9 present with postlingual, late-onset, progressive SNHL and concomitant vestibular impairment [35]. The majority of the COCH mutations leads to misfolding of the FCH/LCCL domain, associated with eosinophilic deposits in inner-ear structures.…”

Section: Coch Genementioning

confidence: 99%

Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing

Finsterer

Fellinger

2005

International Journal of Pediatric Otorhinolaryngology

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“…Nowadays, this symptom complex is known to have many causes, and BVH probably represents a functionally heterogeneous disorder with different combined or isolated deficits of the semicircular canals and/or otolith organs [18]. Most of the etiologies described are presented in table 1[12,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44]. However, its etiology still remains unclear in approximately 50% of all cases [7,19].…”

Section: Introductionmentioning

confidence: 99%

Bilateral Vestibular Hypofunction: Challenges in Establishing the Diagnosis in Adults

Berg

Tilburg

Kingma

2015

ORL

106

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Bilateral vestibular hypofunction (BVH) probably represents a heterogeneous disorder with different types of clinical pictures, with and without vertigo. In spite of increasingly sophisticated electrophysiological testing, still many challenges are met when establishing a diagnosis of BVH. Here, we review the main challenges, which are a reflection of its often difficult clinical presentation and the lack of diagnostic standards regarding the implementation and interpretation of vestibular tests. These challenges show that there is an urgent need for standardization. The resulting decisions should be used for the development of uniform diagnostic criteria for BVH, which are, at present, not yet available.

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Progressive Late-Onset Sensorineural Hearing Loss and Vestibular Impairment with Vertigo (DFNA9/COCH): Longitudinal Analyses in a Belgian Family

Abstract: Linkage to DFNA9 was confirmed and mutation analysis revealed a P51S mutation in the COCH gene. Several patients had a Ménière's-like presentation. All patients developed late-onset progressive sensorineural hearing loss eventually leading to severe deafness and vestibular failure.

Cited by 31 publications

References 16 publications

Ménière’s Disease Is Associated with Single Nucleotide Polymorphisms in the Human Potassium Channel Genes, <i>KCNE1</i> and <i>KCNE3</i>

Ménière’s Disease Is Associated with Single Nucleotide Polymorphisms in the Human Potassium Channel Genes, <i>KCNE1</i> and <i>KCNE3</i>

Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing

Bilateral Vestibular Hypofunction: Challenges in Establishing the Diagnosis in Adults

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