Familial Ménière's disease: clinical and genetic aspects

Morrison, A. W.; Bailey, Mark E.S.; Morrison, G. A. J.

doi:10.1017/s0022215108002788

Cited by 69 publications

(65 citation statements)

References 25 publications

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“…15,17 Some of the described families presented co-segregation with migraine and anticipation, 12,25,26 but the two Spanish families that we report here do not show these features. Our study shows that AD-FMD has an incomplete penetrance with variable expressivity and it confirms a clinical heterogeneity in FMD.…”

Section: Discussionmentioning

confidence: 50%

“…[27][28][29] Third, several relatives in these families presented a partial syndrome with different types of SNHL, including sudden hearing loss (III: 2 in family 2) or pantonal SNHL (II: 2 in family 2) and no vestibular symptoms. These findings observed across different families with MD 12,14,15 suggests that (1) different genes can be involved in the development of the partial or complete phenotype or (2) the interaction of environmental or epigenetic factors can also determine the differences in expressivity within the phenotype. Our findings have started to define two candidate genes associated with FMD and support the hypothesis of genetic heterogeneity in FMD.…”

Section: Discussionmentioning

confidence: 93%

“…6 Epidemiological studies support an association with autoimmune disorders 7,8 and allergic background, 9,10 and genetic susceptibility is widely recognized. 11,12 MD has a female preponderance and is more commonly found in Caucasian and Asian than in African descendant populations. 13 Most of the cases of MD are considered sporadic, but familial clustering has been reported.…”

Section: Introductionmentioning

confidence: 99%

“…13 Most of the cases of MD are considered sporadic, but familial clustering has been reported. 12,[14][15][16] Familial MD (FMD) is observed in 8-10% of sporadic cases, 17 and FAM136A and DTNA genes have been found in a single family with incomplete penetrance. 18 Although most cases present an autosomal dominant (AD) pattern of inheritance, different patterns have been observed, 14,15 suggesting a genetic heterogeneity in FMD.…”

Section: Introductionmentioning

confidence: 99%

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Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease

et al. 2016

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Autosomal dominant (AD) familial Meniere's disease (FMD) is a rare disorder involving the inner ear defined by sensorineural hearing loss, tinnitus and episodic vertigo. Here, we have identified two novel and rare heterozygous variants in the SEMA3D and DPT genes segregating with the complete phenotype that have variable expressivity in two pedigrees with AD-FMD. A detailed characterization of the phenotype within each family illustrates the clinical heterogeneity in the onset and progression of the disease. We also showed the expression of both genes in the human cochlea and performed in silico analyses of these variants. Three-dimensional protein modelling showed changes in the structure of the protein indicating potential physical interactions. These results confirm a genetic heterogeneity in FMD with incomplete penetrance and variable expressivity.

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Section: Discussionmentioning

confidence: 50%

Section: Discussionmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease

et al. 2016

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“…[23][24][25] Tanto a raça asiática como a hispânica apresentam uma menor incidência da DM quando comparadas com a raça caucasiana. 21,41,44 GÉNERO Um ligeiro predomínio da DM no sexo feminino é reportado na grande maioria dos estudos. 3,5,6,15,18 Por outro lado, existem estudos onde não ocorrem diferenças significativas quanto ao género e noutros até um ligeiro predomínio do sexo masculino.…”

Section: Ouvido Direito Vs Ouvido Esquerdounclassified

Epidemiologia da Doença de Ménière: Revisão da Literatura

Ribeiro¹,

Caroça

Paço

2017

Gaz Med

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A doença de Ménière é uma patologia crónica do ouvido interno caracterizada por sintomas vestibulares episódicos associados a hipoacusia neurossensorial, acufeno e plenitude auricular. Tendo sido descrita há mais de 150 anos por Prosper Ménière, ainda hoje em dia a sua epidemiologia continua a ser um enorme desafio para os profissionais que tentam compreender melhor esta doença. Desde a Segunda Guerra Mundial que várias sociedades e grupos de estudo têm tentado aprofundar o conhecimento desta patologia, nomeadamente a sua prevalência e incidência. Contudo, devido à dificuldade de uniformização dos critérios de diagnóstico, estes valores apresentam grande variabilidade. Com o seu aparecimento na meia-idade, a doença de Ménière apresenta-se inicialmente como uma doença unilateral, não se encontrando tendência para uma maior expressividade quanto à lateralidade. Com o passar dos anos, verifica-se uma tendência clara para a bilateralidade da doença de Ménière, em que o tempo de envolvimento do ouvido contralateral pode variar de dois meses a mais de 20 anos. Por outro lado, com o passar dos anos, ocorre uma redução no impacto dos sintomas, nomeadamente através de mudanças no estilo de vida e tratamento médico ou cirúrgico. O sistema imunológico, a enxaqueca, a alergia e o sistema nervoso autónomo estão também associados aos doentes com doença de Ménière. De um modo geral, é consensual que existe um maior predomínio da doença de Ménière na raça caucasiana, quanto ao género, um ligeiro predomínio da doença de Ménière no sexo feminino é reportado na grande maioria dos estudos. Evidências epidemiológicas e genómicas suportam uma suscetibilidade genética.

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Molecular Genetic Analysis of Ménière's Disease

Hietikko

Kotimäki

Männikkö

2013

Encyclopedia of Life Sciences

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Ménière's disease (MD) is an inner ear disease characterised by tinnitus, vertigo and sensorineural hearing loss. The exact aetiology of MD is unknown but it is generally considered as a multifactorial disease. The role of genetic factors in the development of MD has been well documented. Familial clustering of MD has been observed in several studies and the proportion of familial cases is estimated to be 5–23.5%. Single locus on chromosome 12p12.3 has been reported in Swedish MD families. In addition, several inconclusive candidate‐gene analyses have been performed. At the moment, knowledge of genetic factors associated with MD is modest. Molecular genetic study of MD is complicated by genetic and clinical heterogeneity and diagnostic challenges. However, modern genetics may be useful in discovering new pathways associated with the pathophysiology of MD in the future. Key Concepts: The knowledge of genetic factors associated with MD is currently modest. Genetic and clinical heterogeneity, diagnostic challenges, multifactorial origin and late onset of MD create challenges to the molecular genetic analysis of the disease. Family‐based studies may assist to reduce genetic and phenotypic heterogeneity to identify molecular mechanisms or pathways involved in the pathogenesis of MD. Candidate‐gene analysis is an ineffective way to study the genetics of MD and future genetic studies should emphasise the usage of linkage analyses and next‐generation sequencing as well as studying epigenetic pathways. A strong interdisciplinary research environment is needed to successfully study molecular genetics of MD. Combined efforts of highly skilled otologists, geneticists and statisticians are needed to overcome the difficulties in the molecular genetic analyses of MD. To achieve power for genetic studies, a greater number of subjects are needed. This shortcoming may be corrected by an international cooperation between study groups.

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Familial Ménière's disease: clinical and genetic aspects

Abstract: Background and Purpose: Ménière's disease is not uncommon, with an incidence in

Cited by 69 publications

References 25 publications

Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease

Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease

Epidemiologia da Doença de Ménière: Revisão da Literatura

Molecular Genetic Analysis of Ménière's Disease

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