Novel Mutations of the OPA1 Gene in Chinese Dominant Optic Atrophy

Ophthalmology

Volumn 117, Issue 2, 2010, Pages

  Yen, May Yung ^a,b   Wang, An Guor ^a,b   Lin, Yen Ching ^c   Fann, Ming Ji ^b   Hsiao, Kwang Jen ^a  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c LOTUNG POH AI HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; LEUCINE; MESSENGER RNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHINESE; DNA EXTRACTION; DNA SPLICING; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; HUMAN; INTRON; LEUKOCYTE; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MOLECULAR GENETICS; OBSERVATIONAL STUDY; OPA1 GENE; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCREENING;

EID: 75149120931     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2009.07.019     Document Type: Article

References (33)

1. Kline L.B., and Glaser J.S. Dominant optic atrophy: the clinical profile. Arch Ophthalmol 97 (1979) 1680-1686
2. Brown Jr. J., Fingert J.H., Taylor C.M., et al. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol 115 (1997) 95-99
3. Delettre C., Lenaers G., Pelloquin L., et al. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab 75 (2002) 97-107
4. Votruba M., Fitzke F.W., Holder G.E., et al. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol 116 (1998) 351-358
5. Johnston P.B., Gaster R.N., Smith V.C., and Tripathi R.C. A clinicopathologic study of autosomal dominant optic atrophy. Am J Ophthalmol 88 (1979) 868-875
6. Kjer P., Jensen O.A., and Klinken L. Histopathology of the eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol (Copenh) 61 (1983) 300-312
7. Seller M.J., Behnam J.T., Lewis C.M., et al. Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity. J Med Genet 34 (1997) 967-972
8. Delettre C., Lenaers G., Griffoin J.M., et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26 (2000) 207-210
9. Alexander C., Votruba M., Pesch U.E., et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 26 (2000) 211-215
10. Kerrison J.B., Arnould V.J., Ferraz Sallum J.M., et al. 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
11. Delettre C., Griffoin J.M., Kaplan J., et al. Mutation spectrum and splicing variants in the OPA1 gene. Hum Genet 109 (2001) 584-589
12. Pelloquin L., Belenguer P., Menon Y., et al. Fission yeast msp1 is a mitochondrial dynamin related protein. J Cell Sci 112 (1999) 4151-4161
13. Davies V., and Votruba M. Focus on molecules: the OPA1 protein. Exp Eye Res 83 (2006) 1003-1004
14. Olichon A., Guillou E., Delettre C., et al. Mitochondrial dynamics and disease, OPA1. Biochem Biophys Acta 1763 (2006) 500-509
15. Aijaz S., Erskine L., Jeffery G., et al. Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Invest Ophthalmol Vis Sci 45 (2004) 1667-1673
16. Pesch U.E., Fries J.E., Bette S., et al. OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina. Invest Ophthalmol Vis Sci 45 (2004) 4217-4225
17. Wang A.G., Fann M.J., Yu H.Y., and Yen M.Y. OPA1 expression in the human retina and optic nerve. Exp Eye Res 83 (2006) 1171-1178
18. Ferre M., Amati-Bonneau P., Tourmen Y., et al. eOPA1: an online database for OPA1 mutations. Hum Mut 25 (2005) 423-428
19. eOPA1: Online database for OPA1 mutations. Autosomal dominant optic atrophy. OPA1 mutations list. http://lbbma.univ-angers.fr/lbbma.php?id=22&type=m Accessed April 25, 2009
20. Toomes C., Marchbank N.J., Mackey D.A., et al. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet 10 (2001) 1369-1378
21. Butler J.M. Short tandem repeat analysis for human identity testing. In: Haines J.L., Korf B.R., Morton C.C., et al. (Eds). Current Protocols in Human Genetics (2004), Wiley, New York 14.8
22. Puomila A., Huoponen K., Mantyjarvi M., et al. Dominant optic atrophy: correlation between clinical and molecular genetic studies. Acta Ophthalmol Scand 83 (2005) 337-346
23. Nakai K., and Sakamoto H. Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141 (1994) 171-177
24. Li Y., Deng T., Tong Y., et al. Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy. Mol Vis [serial online] 14 (2008) 2451-2457. http://www.molvis.org/molvis/v14/a282/ Available at: http://www.molvis.org/molvis/v14/a282/. Accessed June 17, 2009
25. Schimpf S., Fuhrmann N., Schaich S., and Wissinger B. Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons. Hum Mutat 29 (2008) 106-112
26. Nakamura M., Lin J., Ueno S., et al. Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. Ophthalmology 113 (2006) 483-488
27. Thiselton D.L., Alexander C., Morris A., et al. A frame shift 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
28. Pesch U.E.A., 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 10 (2001) 1359-1368
29. Thiselton D.L., Alexander C., Taanman J.W., et al. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci 43 (2002) 1715-1724
30. Cohn A.C., Toomes C., Potter C., et al. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol 143 (2007) 656-662
31. Pagani F., and Baralle F.E. Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet 5 (2004) 389-396
32. Amati-Bonneau P., Pasquier L., Lainey E., et al. Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1 [letter]. Clin Genet 67 (2004) 102-103
33. Baris O., Delettre C., Amati-Bonneau P., et al. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat 21 (2003) 656