| Autor: |
Chen W; Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA., Campbell CA, Green GE, Van Den Bogaert K, Komodikis C, Manolidis LS, Aconomou E, Kyamides Y, Christodoulou K, Faghel C, Giguére CM, Alford RL, Manolidis S, Van Camp G, Smith RJ |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of medical genetics [J Med Genet] 2002 Jul; Vol. 39 (7), pp. 473-7. |
| DOI: |
10.1136/jmg.39.7.473 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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