Novel mutations in the OPA1 gene and associated clinical features in japanese patients with optic atrophy

Ophthalmology

Volumn 113, Issue 3, 2006, Pages

  Nakamura, Makoto ^a   Lin, Jian ^a   Ueno, Shinji ^a   Asaoka, Ryo ^b   Hirai, Toshie ^a   Hotta, Yoshihiro ^b   Miyake, Yozo ^a   Terasaki, Hiroko ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CENTRAL SCOTOMA; CLINICAL FEATURE; COLOR VISION DEFECT; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MALE; MOLECULAR GENETICS; OPA1 GENE; OPTIC NERVE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; VISUAL ACUITY; VISUAL DISORDER;

EID: 33644519916     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2005.10.054     Document Type: Article

References (33)

1. P. Kjer Infantile optic atrophy with dominant mode of inheritance a clinical and genetic study of 19 Danish families Acta Ophthalmol (Copenh) 164 suppl 1959 1 147
2. W.M. Lyle Genetic Risks A Reference for Eye Care Practitioners 1990 University of Waterloo Press Waterloo, Canada
3. 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
4. J. Brown Jr, J.H. Fingert, C.M. Taylor Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1) Arch Ophthalmol 115 1997 95 99
5. L.B. Kline, J.S. Glaser Dominant optic atrophy. The clinical profile Arch Ophthalmol 97 1979 1680 1686
6. C.S. Hoyt Autosomal dominant optic atrophy. A spectrum of disability Ophthalmology 87 1980 245 251
7. C. Delettre, G. Lenaers, L. Pelloquin OPA1 (Kjer type) dominant optic atrophy a novel mitochondrial disease Mol Genet Metab 75 2002 97 107
8. P.B. Johnston, R.N. Gaster, V.C. Smith, R.C. Tripathi A clinicopathologic study of autosomal dominant optic atrophy Am J Ophthalmol 88 1979 868 875
9. M. Votruba, A.T. Moore, S.S. Bhattacharya Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy J Med Genet 35 1998 793 800
10. R.L. Johnston, M.J. Seller, J.T. Behnam Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies Ophthalmology 106 1999 123 128
11. N. Patel, A.J. Churchill, C. Toomes Importance of molecular testing in dominant optic atrophy [letter] Br J Ophthalmol 86 2002 1314 1315
12. 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
13. 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
14. C. Delettre, J.M. Griffoin, J. Kaplan Mutation spectrum and splicing variants in the OPA1 gene Hum Genet 109 2001 584 591
15. A. Olichon, L.J. Emorine, E. Descoins The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space FEBS Lett 523 2002 171 176
16. Y. Yoon, M.A. McNiven Mitochondrial division new partners in membrane pinching Curr Biol 11 2001 R67 R70
17. 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
18. U.E. Pesch, B. Leo-Kottler, S. Mayer OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance Hum Mol Genet 10 2001 1359 1368
19. 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
20. D.L. Thiselton, C. Alexander, A. Morris A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population evidence for a founder effect Hum Genet 109 2001 498 502
21. S. Shimizu, N. Mori, M. Kishi A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1 Jpn J Ophthalmol 46 2002 336 340
22. D.L. Thiselton, C. Alexander, J.W. Taanman A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy Invest Ophthalmol Vis Sci 43 2002 1715 1724
23. S. Shimizu, N. Mori, M. Kishi A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy Am J Ophthalmol 135 2003 256 257
24. T. Yamada, S. Hayasaka, M. Matsumoto OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484 Jpn J Ophthalmol 47 2003 409 411
25. O. Baris, C. Delettre, P. Amati-Bonneau Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy Hum Mutat 21 2003 656
26. Nakamura M, Miyake Y. Optic atrophy and negative electroretinogram in a patient associated with a novel OPA1 mutation. Graefes Arch Clin Exp Ophthalmol July 2005 (issue online). Available at: http://www.springerlink.com/openurl.asp? genre=article&id=doi:10.1007/s00417-005-0050-3. Accessed August 16, 2005.
27. T. Nagase, K. Ishikawa, M. Suyama Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro DNA Res 5 1998 355 364
28. M.G. Reese, D. Kulp, H. Tammana, D. Haussler Genie - gene finding in Drosophila melanogaster Genome Res 10 2000 529 538
29. M.J. Seller, J.T. Behnam, C.M. Lewis Linkage studies in dominant optic atrophy, Kjer type possible evidence for heterogeneity J Med Genet 34 1997 967 972
30. J.B. Kerrison, V.J. Arnould, J.M. Ferraz Sallum Genetic heterogeneity of dominant optic atrophy, Kjer type identification of a second locus on chromosome 18q12.2-12.3 Arch Ophthalmol 117 1999 805 810
31. M. Votruba, A.T. Moore, S.S. Bhattacharya Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method a study of 38 British Isles pedigrees Hum Genet 102 1998 79 86
32. N.J. Marchbank, J.E. Craig, J.P. Leek Deletion of the OPA1 gene in a dominant optic atrophy family evidence that haploinsufficiency is the cause of disease J Med Genet 39 2002 47 Available at: http://www.jmedgenet.com/cgi/ content/full/39/8/e47. Accessed March 9, 2005
33. E. Smirnova, D.L. Shurland, E.D. Newman-Smith A model for dynamin self-assembly based on binding between three different protein domains J Biol Chem 274 1999 14942 14947