Otosclerosis: a genetically heterogeneous disease involving at least three different genes

Bogaert, Kris Van Den; Govaerts, Paul; Leenheer, Els De; Schatteman, Isabelle; Verstreken, M.; Chen, W; Declau, Frank; Cremers, C.W.R.J.; Heyning, Paul Van de; Offeciers, F.E.; Somers, Thomas; Smith, Richard J.H.; Camp, Guy Van

doi:10.1016/s8756-3282(02)00679-8

Cited by 46 publications

(47 citation statements)

References 9 publications

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“…10 The clinical diagnosis of the four additional families was made in the same way as the other nine families. 10 Persons who had stapes microsurgery were considered affected.…”

Section: Dutch and Belgian Familiesmentioning

confidence: 99%

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A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1

et al. 2007

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“…10 The clinical diagnosis of the four additional families was made in the same way as the other nine families. 10 Persons who had stapes microsurgery were considered affected.…”

Section: Dutch and Belgian Familiesmentioning

confidence: 99%

“…10 The clinical diagnosis of the four additional families was made in the same way as the other nine families. 10 Persons who had stapes microsurgery were considered affected. In non-operated patients, the diagnosis was based on audiologic data, having conductive or mixed hearing loss together with absent stapedial reflexes.…”

Section: Dutch and Belgian Familiesmentioning

confidence: 99%

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1

et al. 2007

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“…These studies have extrapolated the observations of otosclerotic stapes ankylosis irrespective of non-otosclerotic Wxations [1,14,15]. Most of genetic studies on families with stapes Wxation and on large unselected populations have suggested an autosomal dominant inheritance with incomplete penetrance of approximately 40-45% [11,13]. Linkage studies have demonstrated the presence of eight otosclerosis-speciWc loci (OTSC1-8) located on chromosomes 15q, 7q, 6p, 16q, 3q, 6q and 9p, respectively [11][12][13][14][15].…”

Section: Introductionmentioning

confidence: 91%

“…Genetic background of otosclerosis has long been suspected over the last decades, without obvious target genes or mutations to show up [11]. Several studies have reported genetic associations in populations with conductive hearing loss due to stapes ankylosis without histopathological analysis of the removed stapes footplates [12,13].…”

Section: Introductionmentioning

confidence: 99%

“…Most of genetic studies on families with stapes Wxation and on large unselected populations have suggested an autosomal dominant inheritance with incomplete penetrance of approximately 40-45% [11,13]. Linkage studies have demonstrated the presence of eight otosclerosis-speciWc loci (OTSC1-8) located on chromosomes 15q, 7q, 6p, 16q, 3q, 6q and 9p, respectively [11][12][13][14][15]. These loci were mapped and linked to otosclerosis; however, no causative genes and proteins have been identiWed [11][12][13][14][15].…”

Section: Introductionmentioning

confidence: 99%

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Controversies in RELN/reelin expression in otosclerosis

Csomor

Sziklai

Karosi

2011

Eur Arch Otorhinolaryngol

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Several studies have reported a potential genetic association between disease-specific single nucleotide polymorphism (SNPs) of RELN and otosclerosis and confirmed RELN expression in human stapes footplates. These are conflicting results, since RELN expression has been attributed exclusively to neural tissues and to odontoblasts. Otosclerosis is a disease of complex bone remodeling disorder, which is limited to the human otic capsule. Genetic predisposition has long been suspected, however, the pathogenesis remained unclear. Ankylotic stapes footplates (n = 85), cortical bone fragments (n = 4), hearing ossicles (n = 2) and human brain tissue specimens (n = 4) were processed to RELN-specific RT-PCR and reelin-specific immunofluorescent assay (IFA). The first group of ankylotic stapes footplates (n = 22) showed a consistent positive reaction against reelin by IFA; however, RELN-specific mRNA could not be detected in the second, RT-PCR group (n = 63). Brain specimens were characterized by robust expression of reelin (n = 2) and RELN-specific mRNA (n = 2). In case of bone-specific controls (n = 6), reelin/RELN expression was excluded obviously. Concerning current observations, RELN gene does not show active expression in adult stapes footplates. Since, the otic capsule surrounds a special neural structure (membranous labyrinth), reelin might play a coordinative role in the early embryonic stage of development. As being a part of the otic capsule, stapes footplate might be characterized by persisting reelin detectability without mRNA expression. Between these conditions, the etiologic role of RELN is questionable in the pathogenesis of otosclerosis.

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The Putative Role of Measles Virus in the Pathogenesis of Otosclerosis

Karosi

Sziklai

2016

Surgery of Stapes Fixations

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Otosclerosis: a genetically heterogeneous disease involving at least three different genes

Cited by 46 publications

References 9 publications

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1

Controversies in RELN/reelin expression in otosclerosis

The Putative Role of Measles Virus in the Pathogenesis of Otosclerosis

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