On the many faces of Leber hereditary optic neuropathy

Clinical Genetics

Volumn 51, Issue 6, 1997, Pages 388-393

  Oostra, R J ^a,b   Tijmes, N T ^b   Cobben, J M ^c   Bolhuis, P A ^d   Van Nesselrooij, B P M ^e   Houtman, W A ^f   De Kok Nazaruk, M M ^d   Bleeker Wagemakers, E M ^b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e Clinical Genetics Center Utrecht   (Netherlands)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Diagnostic criteria; Genetic counselling; Leber hereditary optic neuropathy; Mitochondrial DNA mutations

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CASE REPORT; CLINICAL GENETICS; CONTROLLED STUDY; DISEASE COURSE; DNA DETERMINATION; FEMALE; GENE MUTATION; GENETIC COUNSELING; HEREDITARY OPTIC ATROPHY; HUMAN; HUMAN CELL; INHERITANCE; MALE; ONSET AGE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SCHOOL CHILD; VISUAL ACUITY;

EID: 0030968727     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02496.x     Document Type: Article

References (23)

1. Black GCM, Craig IW, Oostra RJ, Norby S, Morten K, Laborde A, Poulton J. Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation. Eye 1995: 9: 513-516.
2. Bolhuis PA, Bleeker-Wagemakers EM, Ponne NJ, Van Schooneveld MJ, Westerveld A, Van de Bogen C, Tabak HF. Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 1990: 170: 994-997.
3. Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC, Mitochondrial DNA Complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics 1992: 130: 163-173.
4. Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, Turnbull DM. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 1991: 49: 939-950.
5. Howell N, Halvorson S, Burns J, McCullough DA, Poulton J. When does bilateral optic atrophy become Leber hereditary optic neuropathy? Am J Hum Genet 1993: 53: 959-963.
6. Howell N, Xu M, Halvorson S, Bodis-Wollner I, Sherman J. A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 1994: 55: 203-206.
7. Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 1991: 48: 1147-1153.
8. Johns DR, Neufeld MJ. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1991: 181: 1358-1364.
9. Johns DR, Neufeld MJ, Park RD. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1992: 187: 1551-1557.
10. Johns DR, Smith KH, Savino PJ, Miller NR. Leber's hereditary optic neuropathy: clinical manifestations of the 15257 mutation. Ophthalmology 1993: 100: 981-986.
11. Lott MT, Voljavec AS, Wallace DC. Variable genotype of Leber's hereditary optic neuropathy patients. Am J Ophthalmol 1990: 109: 625-631.
12. Mackey DA, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 1992: 51: 1218-1228.
13. Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S, Bleeker-Wagemakers EM, Savontaus ML, Chan C, Howell N. Primary pathogenic mtDNA mutations in multi- generation pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 1996: 59: 401-405.
14. Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991: 111: 750-762.
15. Nikoskelainen EK, Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus ML. Ophthalmological findings in Leber hereditary optic neuropathy with special reference to mtDNA mutations. Ophthalmology 1996: 103: 504-514.
16. Oostra RJ, Bolhuis PA, Bleeker-Wagemakers EM. Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy. Ophthal Paediatr Gen 1993: 14: 109-115.
17. Oostra RJ, Bolhuis PA, Wijburg FA, Zorn-Ende G, Bleeker-Wagemakers EM. Leber's Hereditary optic neuropathy. Correlations between mitochondrial genotype and visual outcome. J Med Genet 1994a: 31: 280-286.
18. Oostra RJ, Bolhuis PA, Zorn-Ende I, De Kok-Nazaruk MM, Bleeker-Wagemakers EM. Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation. Hum Genet 1994b: 94: 265-270.
19. Oostra RJ, Kemp S, Bolhuis PA, Bleeker-Wagemakers EM. No evidence for "skewed" inactivation of the X chromosome as cause of Leber hereditary optic neuropathy in female carriers. Hum Genet 1996: 97: 500-505.
20. Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutations. Brain 1995: 118: 319-337.
21. Smith KH, Johns DR, Heher KL, Miller NR. Heteroplasmy in Leber's hereditary optic neuropathy. Arch Ophthalmol 1993: 111: 1486-1490
22. Van Senus AHC. Leber's disease in The Netherlands. Doc Ophthalmol 1963: 17: 1-162.
23. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AMS, Elsas LJ, Nikoskelainen EK. Mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy. Science 1988: 242: 1427-1430.