Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 9, 2010, Pages 4600-4611

  Demer, Joseph L ^a,b,c   Clark, Robert A ^a   Tischfield, Max A ^d,e   Engle, Elizabeth C ^e,f,g  

^a JULES STEIN EYE INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^f BOSTON CHILDREN S HOSPITAL   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; ASPARTIC ACID; CYSTEINE; BETA III TUBULIN PROTEIN, HUMAN; BETA III-TUBULIN PROTEIN, HUMAN; TUBULIN;

ABDUCTION; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONGENITAL DISORDER; CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES TYPE 3; CONTROLLED STUDY; DIVERGENT STRABISMUS; ENDOPHENOTYPE; EXTRAOCULAR MUSCLE; EYELID MUSCLE; FEMALE; GENE; GENE LOCATION; HETEROZYGOTE; HUMAN; HYPOPLASIA; MALE; MISSENSE MUTATION; MOTOR NERVE; MUSCLE ATROPHY; MUSCLE CONTRACTILITY; MUSCLE INNERVATION; MUSCLE SIZE; MUSCULOSKELETAL SYSTEM PARAMETERS; MYOFIBROSIS; OPHTHALMOPLEGIA; PEDIGREE; PRIORITY JOURNAL; PTOSIS; SUPERIOR OBLIQUE MUSCLE; TUBB3 GENE; ABDUCENS NERVE; CONGENITAL MALFORMATION; FAMILY HEALTH; FIBROSIS; GENETICS; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOMOTOR NERVE; OCULOMOTOR NERVE DISEASE; OPTIC NERVE; PATHOLOGY; PHENOTYPE; VISUAL ACUITY;

ABDUCENS NERVE; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; FAMILY HEALTH; FEMALE; FIBROSIS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCULAR ATROPHY; MUTATION, MISSENSE; OCULOMOTOR MUSCLES; OCULOMOTOR NERVE; OCULOMOTOR NERVE DISEASES; OPTIC NERVE; PEDIGREE; PHENOTYPE; TUBULIN; VISUAL ACUITY; YOUNG ADULT;

EID: 77957371895     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-5438     Document Type: Article

References (41)

1. Gutowski NJ, Bosley TM, Engle EC. The congenital cranial dysinnervation disorders (CCDDs). 110th ENMCC International Workshop, Naarden, The Netherlands, October, 25-27, 2002. Neuromusc Dis. 2003;13:573-578.
2. Engle EC, Goumnerov BC, McKeown CA, et al. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol. 1997;41:314-325.
3. Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994;7:69-73.
4. Engle EC, Marondel I, Houtman WA, et al. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet. 1995;58: 1086-1094.
5. Yamada K, Andrews C, Chan W-M, et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet. 2003;35:318-321.
6. Wang SM, Zwann J, Mullaney PB, et al. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet. 1998;63:517-525.
7. 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.
8. Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF. Expression and interactions of the two closely related homeobox genes Phox2A and Phox2b during neurogenesis. Development. 1997;124:4065-4075.
9. Guo S, Brush J, Teraoka H, et al. Development of a noradrenergic neurons in the zebrafish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a. Neuron. 1999;24:555-566.
10. Bosley TM, Oystreck DT, Robertson RL, al Awad A, Abu-Amero K, Engle EC. Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Brain. 2006; 129:2363-2374.
11. Doherty EJ, Macy ME, Wang SM, Dykman CP, Melanson MT, Engle EC. CFEOM3: A new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci. 1999;40:1687-1694.
12. Engle EC, McIntosh N, Yamada K, et al. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genet. 2002;3:3.
13. Mackey DA, Chan WM, Chan C, et al. Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Hum Genet. 2002;110:510-512.
14. Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC. A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Arch Ophthalmol. 2000;118:1090-1097.
15. Yamada K, Chan W-W, Andrews C, et al. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci. 2004;45: 2218-2223.
16. Tischfield MA, Baris HN, Gupta ML, et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and neuronal circuitry. Cell. 2010;140:74-87.
17. Demer JL. A 12 year, prospective study of extraocular muscle imaging in complex strabismus. J AAPOS. 2003;6:337-347.
18. Seitz J, Held P, Strotzer M, et al. MR imaging of cranial nerve lesions using six different high-resolution T1 and T2(*)-weighted 3D and 2D sequences. Acta Radiol. 2002;43:349-353.
19. Demer JL, Miller JM. Orbital imaging in strabismus surgery. In: Rosenbaum AL, Santiago AP, eds. Clinical Strabismus Management: Principles and Techniques. Philadelphia: WB Saunders; 1999:84-98.
20. Clark RA, Miller JM, Demer JL. Three-dimensional location of human rectus pulleys by path inflections in secondary gaze positions. Invest Ophthalmol Vis Sci. 2000;41:3787-3797.
21. Demer JL, Ortube MC, Engle EC, Thacker N. High resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. J AAPOS. 2006;10:135-142.
22. Demer JL, Narasimhan A. T2-weighted magnetic resonance imaging (MRI) of extraoccular muscles (EOMs). Abstracts of 35th Annual Meeting of the American Association for Pediatric Ophthalmology and Strabismus. 2009:Abstract 56.
23. Demer JL, Oh SY, Clark RA, Poukens V. Evidence for a pulley of the inferior oblique muscle. Invest Ophthalmol Vis Sci. 2003;44: 3856-3865.
24. Demer JL, Clark RA, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Invest Ophthalmol Vis Sci. 2005;46:530-539.
25. Gillies WE, Harris AJ, Brooks AM, Rivers MR, Wolfe RJ. Congenital fibrosis of the vertically acting extraocular muscles: a new group of dominantly inherited ocular fibrosis with radiologic findings. Ophthalmology. 1995;102:607-612.
26. Lim KH, Engle EC, Demer JL. Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. Invest Ophthalmol Vis Sci. 2007;48: 1601-1606.
27. Demer JL, Clark RA, Lim K-H, Engle EC. Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. Invest Ophthalmol Vis Sci. 2007;48: 5505-5511.
28. Demer JL, Clark RA, Lim KH, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. Invest Ophthalmol Vis Sci. 2007;48:194-202.
29. Karim S, Clark RA, Poukens V, Demer JL. Quantitative magnetic resonance imaging and histology demonstrates systematic variation in human intraorbital optic nerve size. Invest Ophthalmol Vis Sci. 2004;45:1047-1051.
30. Miyake N, Chilton J, Psatha M, et al. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008;321:839-843.
31. Al-Baradie R, Yamada K, St Hilaire C, et al. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet. 2002;71:1195-1199.
32. Atchison DA, Jones CE, Schmid KL, et al. Eye shape in emmetropia and myopia. Invest Ophthalmol Vis Sci. 2004;45:3380-3386.
33. Smith EL, Huang J, Hung LF, et al. Hemiretinal form deprivation: evidence for local control of eye growth and refractive development in infant monkeys. Invest Ophthalmol Vis Sci. 2009;50: 5057-5069.
34. Smith EL, Hung LF, Huang J, Blasdel TL, Humbird TL, Bockhorst KH. Optical defocus influences refractive development in monkeys via local, regionally selective mechanisms. Invest Ophthalmol Vis Sci. Published online March 10, 2010.
35. Demer JL, Miller MJ, Koo EY, Rosenbaum AL, Bateman JB. True versus masquerading superior oblique palsies: muscle mechanisms revealed by magnetic resonance imaging. In: Lennerstrand G, ed. Update on Strabismus and Pediatric Ophthalmology. Boca Raton, FL: CRC Press; 1995:303-306.
36. Oh SY, Clark RA, Velez F, Rosenbaum AL, Demer JL. Incomitant strabismus associated with instability of rectus pulleys. Invest Ophthalmol Vis Sci. 2002;43:2169-2178.
37. Muller U, Steinberger D, Kunze S. Molecular genetics of craniosynostotic syndromes. Graefes Arch Clin Exp Ophthalmol. 1997; 235:545-550.
38. Clark RA, Miller JM, Rosenbaum AL, Demer JL. Heterotopic muscle pulleys or oblique muscle dysfunction? J AAPOS. 1998;2:17-25.
39. Clark RA, Miller JM, Demer JL. Displacement of the medial rectus pulley in superior oblique palsy. Invest Ophthalmol Vis Sci. 1998; 39:207-212.
40. Demer JL, Clark RA, Miller JM. Heterotopy of extraocular muscle pulleys causes incomitant strabismus. In: Lennerstrand G, ed. Advances in Strabismology. Buren, The Netherlands: Aeolus Press; 1999:91-94.
41. Khitri MR, Demer JL. Magnetic resonance imaging of tissues compatible with supernumerary extraocular muscles. Am J Ophthalmol. In press.