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Gene Review

OTSC1  -  otosclerosis 1

Homo sapiens

Synonyms: OTS
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Disease relevance of OTSC1


Psychiatry related information on OTSC1


High impact information on OTSC1

  • Type II collagen autoimmunity in otosclerosis and Meniere's Disease [3].
  • SUBJECTS OF STUDY--Serum samples were obtained from patients with idiopathic, progressive, bilateral sensorineural hearing loss (IPBSNHL) (n = 72) otosclerosis (n = 11), Cogan's syndrome (n = 8), patients with positive tests for antinuclear antibodies (n = 10), and normal controls (n = 53) [11].
  • Middle ear analysis by tympanometry and acoustic reflex analysis indicates that, although some patients with OI have a still middle ear system similar to that seen in otosclerosis, the majority display absent acoustic reflexes and increased compliance of the middle ear with notched tympanograms suggestive of anomalous ossicular articulation [12].
  • We describe a family that was ascertained to have nonsyndromic otosclerosis but was subsequently found to have a congenital stapes ankylosis syndrome that included hyperopia, a hemicylindrical nose, broad thumbs and great toes, and other minor skeletal anomalies but lacked symphalangism [13].
  • After excluding linkage to a known locus on chromosome 15 (OTSC1), we found linkage on chromosome 7q, with a multipoint LOD score of 3.54 [14].

Chemical compound and disease context of OTSC1


Biological context of OTSC1


Anatomical context of OTSC1


Associations of OTSC1 with chemical compounds


Physical interactions of OTSC1

  • Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis [31].
  • Otosclerosis is a disease of complex unknown etiology causing progressive conductive and/or sensorineural hearing loss (HL) [32].

Regulatory relationships of OTSC1

  • To do so, expression and function of the PTH-PTH-related peptide (PTHrP) receptor were studied in the involved tissue (stapes) and compared with that in control bone sample obtained from the external auditory canal (EAC) in the same patient in 10 cases of otosclerosis and in 1 case of osteogenesis imperfecta [33].
  • Patients with clinical otosclerosis were genotyped for the presence of an expressed 4 base-pair insertion polymorphism in the 3' region of the COL1A1 gene [34].

Other interactions of OTSC1


Analytical, diagnostic and therapeutic context of OTSC1


  1. Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3. Chen, W., Campbell, C.A., Green, G.E., Van Den Bogaert, K., Komodikis, C., Manolidis, L.S., Aconomou, E., Kyamides, Y., Christodoulou, K., Faghel, C., Giguére, C.M., Alford, R.L., Manolidis, S., Van Camp, G., Smith, R.J. J. Med. Genet. (2002) [Pubmed]
  2. Localization of a gene for otosclerosis to chromosome 15q25-q26. Tomek, M.S., Brown, M.R., Mani, S.R., Ramesh, A., Srisailapathy, C.R., Coucke, P., Zbar, R.I., Bell, A.M., McGuirt, W.T., Fukushima, K., Willems, P.J., Van Camp, G., Smith, R.J. Hum. Mol. Genet. (1998) [Pubmed]
  3. Type II collagen autoimmunity in otosclerosis and Meniere's Disease. Yoo, T.J., Stuart, J.M., Kang, A.H., Townes, A.S., Tomoda, K., Dixit, S. Science (1982) [Pubmed]
  4. Otosclerosis? Otospongiosis? What's in a name? Gunby, P. JAMA (1979) [Pubmed]
  5. Otosclerosis associated with osteopoikilosis. Strosberg, J.M., Adler, R.G. JAMA (1981) [Pubmed]
  6. The sex ratios of probands and of secondary cases in conditions of multifactorial inheritance where liability varies with sex. James, W.H. J. Med. Genet. (1991) [Pubmed]
  7. Beethoven's renal disease based on his autopsy: a case of papillary necrosis. Schwarz, A. Am. J. Kidney Dis. (1993) [Pubmed]
  8. The Clarion Electrode positioner: approximation to the medial wall and current focussing? Mens, L.H., Boyle, P.J., Mulder, J.J. Audiol. Neurootol. (2003) [Pubmed]
  9. The negative on/off effect in cochlear and early stapedial otosclerosis. Forquer, B.D., Sheehy, J.L. Ear and hearing. (1981) [Pubmed]
  10. New method of using reconstructed images for assessment of patency of intracochlear spaces for cochlear implant candidates. Karino, S., Hayashi, N., Aoki, S., Ohtomo, K., Yamasoba, T. Laryngoscope (2004) [Pubmed]
  11. Serum antibody to inner ear proteins in patients with progressive hearing loss. Correlation with disease activity and response to corticosteroid treatment. Moscicki, R.A., San Martin, J.E., Quintero, C.H., Rauch, S.D., Nadol, J.B., Bloch, K.J. JAMA (1994) [Pubmed]
  12. Hearing and middle ear function in osteogenesis imperfecta. Shapiro, J.R., Pikus, A., Weiss, G., Rowe, D.W. JAMA (1982) [Pubmed]
  13. Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. Brown, D.J., Kim, T.B., Petty, E.M., Downs, C.A., Martin, D.M., Strouse, P.J., Moroi, S.E., Milunsky, J.M., Lesperance, M.M. Am. J. Hum. Genet. (2002) [Pubmed]
  14. A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. Van Den Bogaert, K., Govaerts, P.J., Schatteman, I., Brown, M.R., Caethoven, G., Offeciers, F.E., Somers, T., Declau, F., Coucke, P., Van de Heyning, P., Smith, R.J., Van Camp, G. Am. J. Hum. Genet. (2001) [Pubmed]
  15. Coexisting otosclerosis and Ménière's disease: a diagnostic and therapeutic dilemma. Sismanis, A., Hughes, G.B., Abedi, E. Laryngoscope (1986) [Pubmed]
  16. Fluoride therapy for cochlear otosclerosis? an audiometric and computerized tomography evaluation. Derks, W., De Groot, J.A., Raymakers, J.A., Veldman, J.E. Acta Otolaryngol. (2001) [Pubmed]
  17. Advantages of CO2 laser use in surgical management of otosclerosis. Matković, S., Kitanoski, B., Malicević, Z. Vojnosanitetski pregled. Military-medical and pharmaceutical review. (2003) [Pubmed]
  18. Soft tissue infection around a skin penetrating osseointegrated implant. A case report. Jacobsson, M., Tjellström, A., Thomsen, P., Albrektsson, T. Scandinavian journal of plastic and reconstructive surgery and hand surgery / Nordisk plastikkirurgisk forening [and] Nordisk klubb for handkirurgi. (1987) [Pubmed]
  19. The effects of etidronate disodium on progressive hearing loss from otosclerosis. Kennedy, D.W., Hoffer, M.E., Holliday, M. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. (1993) [Pubmed]
  20. Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. Di Leva, F., D'Adamo, A.P., Strollo, L., Auletta, G., Caravelli, A., Carella, M., Mari, F., Livi, W., Renieri, A., Gasparini, P., D'Urso, M., Marciano, E., Franzé, A. International journal of audiology. (2003) [Pubmed]
  21. High resolution computed tomography of the temporal bone. Shaffer, K.A., Haughton, V.M., Wilson, C.R. Radiology. (1980) [Pubmed]
  22. Cochlear implant candidates: assessment with CT and MR imaging. Harnsberger, H.R., Dart, D.J., Parkin, J.L., Smoker, W.R., Osborn, A.G. Radiology. (1987) [Pubmed]
  23. Stapes prosthesis: evaluation with CT. Swartz, J.D., Lansman, A.K., Berger, A.S., Wolfson, R.J., Bell, G., Popky, G.L., Swartz, N.G. Radiology. (1986) [Pubmed]
  24. Age-related hearing loss and bone mass in a population of rural women aged 60 to 85 years. Clark, K., Sowers, M.R., Wallace, R.B., Jannausch, M.L., Lemke, J., Anderson, C.V. Annals of epidemiology. (1995) [Pubmed]
  25. Cortisol levels in the human perilymph after intravenous administration of prednisolone. Niedermeyer, H.P., Zahneisen, G., Luppa, P., Busch, R., Arnold, W. Audiol. Neurootol. (2003) [Pubmed]
  26. Drugs affecting the inner ear. A review of their clinical efficacy, mechanisms of action, toxicity, and place in therapy. Norris, C.H. Drugs (1988) [Pubmed]
  27. CT densitometry of the cochlear capsule in otosclerosis. Valvassori, G.E., Dobben, G.D. AJNR. American journal of neuroradiology. (1985) [Pubmed]
  28. Fluoride therapy for otosclerosis. Shambaugh, G.E. Arch. Otolaryngol. Head Neck Surg. (1990) [Pubmed]
  29. CO2 laser for otosclerosis: safe energy parameters. Lesinski, S.G., Palmer, A. Laryngoscope (1989) [Pubmed]
  30. Eliminating the limitations of manual crimping in stapes surgery? A preliminary trial with the shape memory Nitinol stapes piston. Rajan, G.P., Atlas, M.D., Subramaniam, K., Eikelboom, R.H. Laryngoscope (2005) [Pubmed]
  31. Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. McKenna, M.J., Nguyen-Huynh, A.T., Kristiansen, A.G. Otol. Neurotol. (2004) [Pubmed]
  32. Antimeasles immunoglobulin g for serologic diagnosis of otosclerotic hearing loss. Karosi, T., Kónya, J., Petkó, M., Szabó, L.Z., Pytel, J., Jóri, J., Sziklai, I. Laryngoscope (2006) [Pubmed]
  33. Parathyroid hormone-parathyroid hormone-related peptide receptor expression and function in otosclerosis. Grayeli, A.B., Sterkers, O., Roulleau, P., Elbaz, P., Ferrary, E., Silve, C. Am. J. Physiol. (1999) [Pubmed]
  34. Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. McKenna, M.J., Kristiansen, A.G., Tropitzsch, A.S. The Annals of otology, rhinology, and laryngology. (2002) [Pubmed]
  35. The genetics of otosclerosis: pedigree studies and linkage analysis. Saeed, S.R., Briggs, M., Lobo, C., Al-Zoubi, F., Ramsden, R.T., Read, A.P. Adv. Otorhinolaryngol. (2007) [Pubmed]
  36. Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree. Iliadou, V., Van Den Bogaert, K., Eleftheriades, N., Aperis, G., Vanderstraeten, K., Fransen, E., Thys, M., Grigoriadou, M., Pampanos, A., Economides, J., Iliades, T., Van Camp, G., Petersen, M.B. Int. J. Pediatr. Otorhinolaryngol. (2006) [Pubmed]
  37. Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. Brownstein, Z., Goldfarb, A., Levi, H., Frydman, M., Avraham, K.B. Arch. Otolaryngol. Head Neck Surg. (2006) [Pubmed]
  38. Fenestration surgery for otosclerosis: CT findings of an old surgical procedure. Niyazov, D., Borges, A., Ishiyama, A., Zaragoza, E., Lufkin, R. AJNR. American journal of neuroradiology. (2000) [Pubmed]
  39. Neurologic perspectives of otosclerosis. Thomas, J.E., Cody, D.T. Mayo Clin. Proc. (1981) [Pubmed]
  40. Trembling chin--a report of this inheritable dominant character in a four-generation Canadian family. Alsager, D.E., Bowen, P., Bamforth, J.S. Clin. Genet. (1991) [Pubmed]
  41. Experimental and clinical results of Er:YAG laser stapedotomy. Lippert, B.M., Gottschlich, S., Külkens, C., Folz, B.J., Rudert, H., Werner, J.A. Lasers in surgery and medicine. (2001) [Pubmed]
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