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J Med Genet 2002;39:473-477 doi:10.1136/jmg.39.7.473
  • Original article

Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3

  1. W Chen1,
  2. C A Campbell1,
  3. G E Green2,
  4. K Van Den Bogaert3,
  5. C Komodikis4,
  6. L S Manolidis5,7,
  7. E Aconomou4,
  8. Y Kyamides4,
  9. K Christodoulou6,
  10. C Faghel3,
  11. C M Giguére1,
  12. R L Alford7,
  13. S Manolidis5,7,
  14. G Van Camp3,
  15. R J H Smith1
  1. 1Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
  2. 2Department of Surgery, University of Arizona College of Medicine, USA
  3. 3Department of Medical Genetics, University of Antwerp-UIA, Belgium
  4. 4Department of Otolaryngology, Makarios Hospital, Nicosia, Cyprus
  5. 5Department of Otolaryngology, Aristotelian University, Thessaloniki, Greece
  6. 6Molecular Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
  7. 7The Bobby R Alford Department of Otorhinolaryngology and Communicative Sciences, Baylor College of Medicine, Houston, TX, USA
  1. Correspondence to:
 Dr R J H Smith, Molecular Otolaryngology Research Laboratories, Department of Otolaryngology - Head and Neck Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA;
 richard-smith{at}uiowa.edu
  • Accepted 19 March 2002
  • Revised 22 February 2002

Abstract

Clinical otosclerosis (OMIM 166800/605727) has a prevalence of 0.2-1% among white adults, making it the single most common cause of hearing impairment in this group. It is caused by abnormal bone homeostasis of the otic capsule with the consequent development of sclerotic foci that invade the stapedio-vestibular joint (oval window) interfering with free motion of the stapes. Impaired ossicular chain mobility results in a conductive hearing loss.

We identified the first locus for otosclerosis (OTSC1) on chromosome 15 in 1998 and reported a second locus (OTSC2) on chromosome 7 last year. Here we present results of a genome wide linkage study on a large Cypriot family segregating otosclerosis. Results of this study exclude linkage to OTSC1 and OTSC2 and identify a third locus, OTSC3, on chromosome 6p. The defined OTSC3 interval covers the HLA region, consistent with reported associations between HLA-A/HLA-B antigens and otosclerosis.

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