An overview of the etiology of otosclerosis

@article{Markou2008AnOO,
  title={An overview of the etiology of otosclerosis},
  author={Konstantinos Markou and John K. Goudakos},
  journal={European Archives of Oto-Rhino-Laryngology},
  year={2008},
  volume={266},
  pages={25-35}
}
Otosclerosis is the primary disease affecting the homeostasis of otic capsule and is among the most common causes of acquired hearing loss. Otosclerosis is considered as a multifactor disease, caused by both genetic and environmental factors. The aim of the present review is to summarize and analyze the bibliographic data, associated with the etiology of the disease. In some cases, the otosclerosis has an autosomal dominant mode of inheritance with incomplete penetrance. Genetic studies reveal… Expand
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References

SHOWING 1-10 OF 120 REFERENCES
The aetiology of otosclerosis: a review of the literature.
  • D. Menger, R. Tange
  • Medicine, Mathematics
  • Clinical otolaryngology and allied sciences
  • 2003
TLDR
A historical overview and analysis of the literature dealing with the aetiology of otosclerosis, including the role of collagen disorders, genetic linkage studies, associations with the HLA system and measles virus infection as causal factors is presented. Expand
The Genetics of otosclerosis
TLDR
The goal of this paper is to review the genetics of otosclerosis and to provide insight into studies that could be performed to elucidate disease pathogenesis. Expand
Pathophysiology of Otosclerosis
  • R. Chole, M. McKenna
  • Medicine
  • Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
  • 2001
TLDR
Otosclerosis is a localized disease of bone remodeling within the otic capsule of the human temporal bone, and fluorides, cytokine inhibitors, and bisphosphonates appear to hold the most promise. Expand
Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta.
TLDR
Some cases of clinical otosclerosis may be related to mutations within the COL1A1 gene that are similar to those found in mild forms of osteogenesis imperfecta and result in null expression of the mutant allele. Expand
A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.
Otosclerosis due to abnormal bone homeostasis of the otic capsule is a frequent cause of hearing loss in adults. Usually, the hearing loss is conductive, resulting from fixation of the stapedialExpand
A genetic study of otosclerosis in a population living in the north of Tunisia.
TLDR
The authors have estimated that only 13% of affected patients are carriers of the rare dominant gene, which has strong penetrance which, however, varies according to age and sex. Expand
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1
TLDR
A genome-wide linkage study was performed in a large Greek pedigree segregating autosomal dominant otosclerosis, and a seventh locus, OTSC7, was localized on chromosome 6q13–16 with a multipoint LOD score of 7.1. Expand
A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24
TLDR
Otosclerosis can be considered a genetically complex disease, caused by an interaction of genes and environmental factors, but with rare monogenic forms, and a large Dutch family segregating an autosomal dominant otosclerosis is identified. Expand
HISTOPATHOLOGY OF THE STAPES IN OTOSCLEROSIS
TLDR
The evidence supports the view that the severity and extent of otosclerotic disease in the footplate is determined more by age at onset than by duration of symptoms. Expand
Do the Genes That Cause Otosclerosis Reduce Susceptibility to Otitis Media?
TLDR
The incidence of chronic otitis media in subjects with a surgically confirmed diagnosis of otosclerosis is significantly lower than expected and the genes that cause otos sclerosis may confer resistance to the pathogens that cause chronic Otitis media and/or acute otitisMedia. Expand
...
1
2
3
4
5
...