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Gene Review: 

FEOM3  -  fibrosis of extraocular muscles,...

Homo sapiens

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Disease relevance of FEOM3

  • Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus [1].
 

High impact information on FEOM3

  • Although KIF21A is the first gene to be associated with CFEOM3, the results imply that mutations in the unidentified FEOM3 gene are the more common cause of this phenotype [2].
  • We have had the opportunity to study the reported family with this fourth phenotype and now demonstrate that their phenotype can be reclassified as CFEOM3 and that it maps to FEOM3, flanked by D16S498 to 16qter, with a maximum lod score of 6.0 [1].
  • Our analysis only permitted the exclusion of the FEOM3 locus and the FEOM2 gene, ARIX [3].
  • These two families may harbor mutations in the FEOM3 gene, as their phenotype is consistent with linkage to this locus [4].
 

Biological context of FEOM3

References

  1. Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Mackey, D.A., Chan, W.M., Chan, C., Gillies, W.E., Brooks, A.M., O'Day, J., Engle, E.C. Hum. Genet. (2002) [Pubmed]
  2. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Yamada, K., Chan, W.M., Andrews, C., Bosley, T.M., Sener, E.C., Zwaan, J.T., Mullaney, P.B., Oztürk, B.T., Akarsu, A.N., Sabol, L.J., Demer, J.L., Sullivan, T.J., Gottlob, I., Roggenkäemper, P., Mackey, D.A., De Uzcategui, C.E., Uzcategui, N., Ben-Zeev, B., Traboulsi, E.I., Magli, A., de Berardinis, T., Gagliardi, V., Awasthi-Patney, S., Vogel, M.C., Rizzo, J.F., Engle, E.C. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  3. Familial unilateral Brown syndrome. Iannaccone, A., McIntosh, N., Ciccarelli, M.L., Baldi, A., Mutolo, P.A., Tedesco, S.A., Engle, E.C. Ophthalmic Genet. (2002) [Pubmed]
  4. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. Engle, E.C., McIntosh, N., Yamada, K., Lee, B.A., Johnson, R., O'Keefe, M., Letson, R., London, A., Ballard, E., Ruttum, M., Matsumoto, N., Saito, N., Collins, M.L., Morris, L., Del Monte, M., Magli, A., de Berardinis, T. BMC Genet. (2002) [Pubmed]
  5. A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. Uyama, E., Yamada, K., Kawano, H., Chan, W.M., Andrews, C., Yoshioka, M., Uchino, M., Engle, E.C. Neuromuscul. Disord. (2003) [Pubmed]
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