Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

OTSC2 - otosclerosis 2

Homo sapiens

Van Den Bogaert, K. et al., Di Leva, F. et al., Chen, W. et al.

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High impact information on OTSC2

These results indicate that, besides OTSC1 and OTSC2, there must be at least one additional otosclerosis locus [1].
Heterogeneity testing provided significant evidence for genetic heterogeneity, with an estimated 25% of families linked to OTSC2 [1].

Biological context of OTSC2

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) [1].
Here, we report a detailed audiological analysis of these families and a genetic linkage study on the OTSC1 and OTSC2 loci [2].

Other interactions of OTSC2

Results of this study exclude linkage to OTSC1 and OTSC2 and identify a third locus, OTSC3, on chromosome 6p [3].

References

Otosclerosis: a genetically heterogeneous disease involving at least three different genes. Van Den Bogaert, K., Govaerts, P.J., De Leenheer, E.M., Schatteman, I., Verstreken, M., Chen, W., Declau, F., Cremers, C.W., Van De Heyning, P.H., Offeciers, F.E., Somers, T., Smith, R.J., Van Camp, G. Bone (2002) [Pubmed]
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]
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]

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