Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: A syndrome caused by a missense mutation in OPA1

American Journal of Ophthalmology

Volumn 138, Issue 5, 2004, Pages 749-755

  Payne, Marielle ^a   Yang, Zhenglin ^a,b,d   Katz, Bradley J ^a,b   Warner, Judith E A ^a   Weight, Christopher J ^a   Zhao, Yu ^a,b   Pearson, Erik D ^a,b   Treft, Robert L ^a,e   Hillman, Todd ^c   Kennedy, Richard J ^c   Meire, Francoise M ^f   Zhang, Kang ^a,b  

^a Dept of Ophthalmol and Vis Sci ^*  (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^d Sichuan   (China)

^e Layton   (United States)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HISTIDINE; NUCLEOTIDE;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXON; EXTERNAL OPHTHALMOPLEGIA; FAMILY; FEMALE; GENE IDENTIFICATION; GENE LOCATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; INHERITANCE; MALE; MISSENSE MUTATION; OBSERVATION; OPTIC NERVE ATROPHY; PATIENT CARE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; RISK; SCHOOL CHILD; SCORING SYSTEM; VEIN PUNCTURE; VISUAL SYSTEM EXAMINATION;

ADOLESCENT; ADULT; AGED; BLEPHAROPTOSIS; CHILD; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; GTP PHOSPHOHYDROLASES; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; OPHTHALMOPLEGIA; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; SYNDROME;

EID: 7544246760     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2004.06.011     Document Type: Article

References (28)

1. R.L. Treft, G.E. Sanborn, J. Carey Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy A new syndrome Ophthalmology 91 1984 908 915
2. F. Meire, J.J. De Laey, S. de Bie, M. van Staey, M.T. Matton Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO) Ophthalmic Paediatr Genet 5 1985 91 97
3. D. Eliott, E.I. Traboulsi, I.H. Maumenee Visual prognosis in autosomal dominant optic atrophy (Kjer type) Am J Ophthalmol 115 1993 360 367
4. B. Kjer, H. Eiberg, P. Kjer, T. Rosenberg Dominant optic atrophy mapped to chromosome 3q region II. Clinical and epidemiological aspects Acta Ophthalmol Scand 74 1996 3 7
5. C.S. Hoyt Autosomal dominant optic atrophy A spectrum of disability Ophthalmology 245 1980 251
6. C. Alexander, M. Votruba, U.E. Pesch OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 Nat Genet 26 2000 211 215
7. C. Delettre, G. Lenaers, J.M. Griffoin Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy Nat Genet 26 2000 207 210
8. C. Delettre, J.M. Griffoin, J. Kaplan Mutation spectrum and splicing variants in the OPA1 gene Hum Genet 109 2001 584 591
9. Doughty DD, Lennarson LW, Scott WE. A graphic portrayal of versions. Perspect Ophthalmol 1978:55-59.
10. Z. Yang, N.S. Peachey, D.M. Moshfeghi Mutations in the RPGR gene cause X-linked cone dystrophy Hum Mol Genet 11 2002 605 611
11. K. Zhang, M. Kniazeva, M. Han A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy Nat Genet 27 2001 89 93
12. Thiselton DL, Alexander C, Taanman JW, et al. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci 2002:1715-1724.
13. Shimizu S, Mori N, Kishi M, et al. A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. Am J Ophthalmol 2003:256-257.
14. Amati-Bonneau P, Odent S, Derrien C, et al. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Am J Ophthalmol 2003:1170-1171.
15. J.M. Shaw, J. Nunnari Mitochondrial dynamics and division in budding yeast Trends Cell Biol 12 2002 178 184
16. E.D. Wong, J.A. Wagner, S.V. Scott The intramitochondrial dynamin-related GTPase, Mgm1p, is a component of a protein complex that mediates mitochondrial fusion J Cell Biol 160 2003 303 311
17. H. Sesaki, S.M. Southard, M.P. Yaffe, R.E. Jensen Mgm1p, a dynamin-related GTPase, is essential for fusion of the mitochondrial outer membrane Mol Biol Cell 14 2003 2342 2356
18. K.G. Hales, M.T. Fuller Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase Cell 90 1997 121 129
19. A. Olichon, L. Baricault, N. Gas Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis J Biol Chem 278 2003 7743 7746
20. Pesch UE, Leo-Kottler B, Mayer S, et al. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet 2001:1359-1368.
21. C. Toomes, N.J. Marchbank, D.A. Mackey Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy Hum Mol Genet 10 2001 1369 1378
22. P.M. Okamoto, B. Tripet, J. Litowski, R.S. Hodges, R.B. Vallee Multiple distinct coiled-coils are involved in dynamin self-assembly J Biol Chem 274 1999 10277 10286
23. E. Smirnova, D.L. Shurland, E.D. Newman-Smith, B. Pishvaee, A.M. van der Bliek A model for dynamin self-assembly based on binding between three different protein domains J Biol Chem 274 1999 14942 14947
24. Strom TM, Hortnagel K, Hofmann S, et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 1998:2021-2028.
25. N.J. Newman From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers J Neuroophthalmol 22 2002 257 261
26. M. Thambisetty, N.J. Newman, J.D. Glass, M.R. Frankel A practical approach to the diagnosis and management of MELAS: case report and review Neurologist 8 2002 302 312
27. Crimi M, Galbiati S, Perini MP, et al. A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness. Neurology 2003:1200-1203.
28. Malik SG, Pieter N, Sudoyo H, Kadir A, Marzuki S. Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. J Hum Genet 2003:480-483.