PMID: 11934656Apr 6, 2002Paper

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

Bone
Kris Van Den BogaertGuy Van Camp

Abstract

Otosclerosis is caused by abnormal bone homeostasis of the otic capsule, resulting in hearing impairment in 0.3%-0.4% of the white population. The etiology of the disease remains unclear and environmental as well as genetic factors have been implicated. We localized the first autosomal-dominant locus to chromosome 15 in 1998 (OTSC1) in an Indian family and, recently, we reported the localization of a second gene for otosclerosis to a 16 cM interval on chromosome 7q (OTSC2). In this study, we recruited and analyzed nine additional families (seven Belgian and two Dutch families with 53 affected and 20 unaffected subjects) to investigate the importance of these loci in autosomal-dominant otosclerosis. We completed linkage analysis with three microsatellite markers of chromosome 15 (D15S652, D15S1004, D15S657) and five microsatellite markers of chromosome 7 (D7S495, D7S2560, D7S684, D7S2513, D7S2426). In two families, results compatible with linkage to OTSC2 were found, but in the seven remaining families OTSC1 and OTSC2 were excluded. Heterogeneity testing provided significant evidence for genetic heterogeneity, with an estimated 25% of families linked to OTSC2. These results indicate that, besides OTSC1 and OTSC2, there must be a...Continue Reading

References

Jan 1, 1980·The Laryngoscope·G N Donnell, O S Alfi
Oct 1, 1996·International Journal of Pediatric Otorhinolaryngology·P L HuygenF B Joosten
Jun 1, 1997·Dermatologic Surgery : Official Publication for American Society for Dermatologic Surgery [et Al.]·B KaplanR L Moy
Mar 21, 1998·Human Molecular Genetics·M S TomekR J Smith
Feb 15, 2001·American Journal of Human Genetics·K Van Den BogaertG Van Camp
Sep 25, 2001·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·F DeclauP Van de Heyning

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Citations

Oct 3, 2007·The Journal of Laryngology and Otology·F Q AlzoubiS R Saeed
Jan 11, 2007·European Journal of Human Genetics : EJHG·Melissa ThysGuy Van Camp
Sep 23, 2003·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Antoon J M van der Rijt, Cor W R J Cremers
Nov 6, 2003·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Spiros ManolidisLeonidas Manolidis
Jul 9, 2004·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Tamás KarosiIstván Sziklai
Nov 8, 2005·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Tamás KarosiIstván Sziklai
Sep 10, 2005·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Edgar BachorCollin S Karmody
Jun 24, 2009·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Melissa Thys, Guy Van Camp
Oct 10, 2009·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Péter CsomorTamás Karosi
Feb 2, 2013·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Balázs LiktorTamás Karosi
Apr 3, 2009·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·István SziklaiTamás Karosi
Jun 10, 2010·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Tamás Karosi, István Sziklai
Jun 2, 2011·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Péter CsomorTamás Karosi
Dec 2, 2011·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Péter CsomorTamás Karosi
Dec 9, 2003·International Journal of Audiology·Francesca Di LevaAnnamaria Franzé
Jul 18, 2009·Hearing Research·Megan Ealy, Richard J H Smith
Mar 26, 2009·Autoimmunity Reviews·Tamás KarosiIstván Sziklai
Aug 16, 2015·Hearing Research·M RudicN Zarkovic
May 4, 2005·The Laryngoscope·Robert W Jyung, Chitsuda Wacharasindhu
Oct 14, 2005·The Laryngoscope·William H LippyJohn M Burkey
Jul 27, 2007·Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery·I MoumoulidisE Reid
Aug 29, 2006·American Journal of Otolaryngology·Luca MoscilloGaetano Motta
Jul 19, 2013·ISRN Otolaryngology·Balázs LiktorTamás Karosi
Jan 9, 2015·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Céline RichardFred H Linthicum
Oct 26, 2005·The Annals of Otology, Rhinology, and Laryngology·Ilka C NaumannUgo Fisch
Oct 31, 2013·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·Arnold J N BittermannWilko Grolman
Mar 8, 2017·Nature Biotechnology·John V Brigande
Aug 5, 2010·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Péter CsomorTamás Karosi
Jun 14, 2019·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Helena WichovaHinrich Staecker
Jan 28, 2021·Journal of Personalized Medicine·I-Shiang Tzeng

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