338
Views
4
CrossRef citations to date
0
Altmetric
Letters to the Journal

Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles

, , , , &

References

  • Heidary G, Traboulsi E, Engle E. The genetics of strabismus and associated disorders. In: Traboulsi E, editor. Genetic diseases of the eye. New York: Oxford University Press; 2012. pp 657–686.
  • Yamada K, Andrews C, Chan WM, et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet 2003;35:318–321.
  • Nakano M, Yamada K, Fain J, et al. Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet 2001;29:315–320.
  • Miki H, Setou M, Kaneshiro K, Hirokawa N. All kinesin superfamily protein, KIF, genes in mouse and human. Proc Natl Acad Sci USA 2001;98:7004–7011.
  • Hasan KB, Agarwala S, Ragsdale CW. PHOX2A regulation of oculomotor complex nucleogenesis. Development 2010;137:1205–1213.
  • Demer JL, Clark RA, Tischfield MA, et al. Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. Invest Ophthalmol Vis Sci 2010;51:4600–4611.
  • Ali Z, Xing C, Anwar D, et al. A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome. Mol Vis 2014;20:368–375.
  • Bosley TM, Oystreck DT, Robertson RL, et al. Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Brain 2006;129(Pt 9):2363–2374.
  • Aubourg P, Krahn M, Bernard R, et al. Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes. J Med Genet 2005;42:253–259.
  • Tischfield MA, Baris HN, Wu C, et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 2010;140:74–87.
  • Bahi-Buisson N, Poirier K, Fourniol F, et al. The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain 2014;137(Pt 6):1676–1700.
  • Poirier K, Saillour Y, Bahi-Buisson N, et al. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet 2010;19:4462–4473.
  • Whitman MC, Andrews C, Chan WM, et al. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A2016;170:297–305.
  • MacKinnon S, Oystreck DT, Andrews C, et al. Diagnostic distinctions and genetic analysis of patients diagnosed with Moebius syndrome. Ophthalmology 2014;121:1461–1468.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.