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Gene Review:

OPA2 - optic atrophy 2 (obscure)

Homo sapiens

Katz, B.J. et al., Lubs, H. et al., Votruba, M., Ozden, S. et al.

Katz, Zhao, Warner, Tong, Yang, Zhang, Votruba,

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Disease relevance of OPA2

X-linked optic atrophy (OPA2) has been mapped but to date no gene has been identified [1].

High impact information on OPA2

Twenty-four new localizations have been established, including five in previously reported conditions (FG, Carpenter, Arts, OPA2, and OFD1) [2].
A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2 [3].
Preliminary linkage analysis (LOD score = 1.8) revealed that the disease gene localized to the OPA2 locus on Xp11.4-Xp11 [3].
Linkage analysis excluded OPA1 and OPA2 [4].

References

Molecular genetic basis of primary inherited optic neuropathies. Votruba, M. Eye (London, England) (2004) [Pubmed]
XLMR genes: update 1998. Lubs, H., Chiurazzi, P., Arena, J., Schwartz, C., Tranebjaerg, L., Neri, G. Am. J. Med. Genet. (1999) [Pubmed]
A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2. Katz, B.J., Zhao, Y., Warner, J.E., Tong, Z., Yang, Z., Zhang, K. Am. J. Med. Genet. A (2006) [Pubmed]
Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family. Ozden, S., Düzcan, F., Wollnik, B., Cetin, O.G., Sahiner, T., Bayramoğlu, I., Yüksel-Apak, M., Bağci, H. Ophthalmic Genet. (2002) [Pubmed]

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