Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation

American Journal of Human Genetics

Volumn 57, Issue 1, 1995, Pages 77-86

  Harding, A E ^a   Sweeney, M G ^a   Govan, G G ^a   Riordan Eva, P ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; FEMALE; GENE FREQUENCY; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PEDIGREE ANALYSIS; PENETRANCE; PRIORITY JOURNAL; RECURRENCE RISK; X CHROMOSOME INACTIVATION;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; HETEROZYGOTE; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; RISK FACTORS; X CHROMOSOME;

EID: 0029064615     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (43)

1. Bolhuis PA, Bleeker-Wagemakers EM, Ponne NJ, Van Schooneveld MJ, Westerveld A, Van den Bogert C, Tabak HF (1990) Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 170:994-997
2. Brown MD, Voljavec AS, Lott MT, Torroni A, Yang C-C, Wallace DC (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics 130:163-173
3. Bu X, Rotter JI (1991) X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci USA 88:8198-8202
4. Carvalho MRS, Müller B, Rötzer E, Berninger T, Kommerell G, Blankennagel A, Savontaus ML, et al (1992) Leber hereditary neuroretinopathy and the X-chromosomal susceptibility factor: no linkage to DXS7. Hum Hered 42:316-320
5. Cormier V, Rötig A, Geny C, Cesaro P, Dufier J-L, Munnich A (1991) mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy. Am J Hum Genet 48:813-814
6. Harding AE, Sweeney MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D, McDonald WI, et al (1992) Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 115:979-989
7. Holt IJ, Harding AE, Petty RKH, Morgan-Hughes JA (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46:428-433
8. Holt IJ, Miller DH, Harding AE (1989) Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy. J Med Genet 26:739-743
9. Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, et al (1991) Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 49:939-950
10. Howell N, Kubacka I, Halvorson S, Mackey D (1993) Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene. Genetics 133:133-136
11. Howell N, Xu M, Halvorson S, Bodis-Wollner I, Sherman J (1994) A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 55:203-206
12. Huoponen K, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus M-L (1993) The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy. Hum Genet 92:379-384
13. Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus M-L (1991) A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 48:1147-1153
14. Johns DR, Berman J (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 174:1324-1330
15. Johns DR, Heher KL, Miller NR, Smith KH (1993a) Leber's hereditary optic neuropathy: clinical manifestations of the 14484 mutation. Arch Ophthalmol 111:495-498
16. Johns DR, Smith KH, Miller NR (1992) Leber's hereditary optic neuropathy: clinical manifestations of the 3460 mutation. Arch Ophthalmol 110:1577-1851
17. Johns DR, Smith KH, Miller NR, Sulewski ME, Bias WB (1993b) Identical twins who are discordant for Leber's hereditary optic neuropathy. Arch Ophthalmol 111:1491-1494
18. Johns DR, Smith KH, Savino PJ, Miller NR (1993c) Leber's hereditary optic neuropathy: clinical manifestations of the 15257 mutation. Ophthalmology 100:981-986
19. Juvonen V, Vilkki J, Aula P, Nikoskelainen E, Savontaus M-L (1993) Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary otpic neuroretinopathy (LHON). Am J Hum Genet 53:289-292
20. Kellar-Wood H, Robertson N, Govan GG, Compston DAS, Harding AE (1994) Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann Neurol 36:109-112
21. Lott MT, Voljavec AS, Wallace DC (1990) Variable genotype of Leber's hereditary optic neuropathy patients. Am J Ophthalmol 109:625-631
22. Mackey D, Howell N (1992) A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 51:1218-1228
23. Nakamura M, Ara F, Yamada M, Hotta Y, Hayakawa M, Fujiki K, Kanai A, et al (1992) High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy. Jpn J Ophthalmol 36:56-61
24. Nakamura M, Fujiwara Y, Yamamoto M (1993) The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees. Hum Genet 91:339-341
25. Newman NJ, Lott MT, Wallace DC (1991) The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 111:750-762
26. Nikoskelainen E (1984) New aspects of the genetic, etiologic and clinical puzzle of Leber's disease. Neurology 34:1482-1484
27. Nikoskelainen E, Savontaus ML, Wanne OP, Katila MJ, Nummelin K (1987) Leber's hereditary optic neuroretinopathy, a maternally inherited disease: a genealogic study in four pedigrees. Arch Ophthalmol 105:665-671
28. Obermaier-Kusser B, Lorenz B, Schubring S, Paprotta A, Zerres K, Meitinger T, Meire F, et al (1994) Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy. Am J Hum Genet 55:1063-1066
29. Oostra RJ, Bolhuis PA, Wijburg FA, Zorn-Ende G, Bleeker-Wagemakers EM (1994a) Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet 31:280-286
30. Oostra RJ, Bolhuis PA, Zorn-Ende I, de Kok-Nazaruk MM, Bleeker-Wagemakers EM (1994b) Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation. Hum Genet 94:265-270
31. Poulton J, Deadman ME, Bronte-Stewart J, Foulds WS, Gardiner RM (1991) Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy. J Med Genet 28:765-770
32. Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE (1995) The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118:319-338
33. Seedorff T (1968) Leber's disease. Acta Ophthalmol 46:4-25
34. _ (1985) The inheritance of Leber's disease: a genealogical follow-up study. Acta Ophthalmol 63:135-145
35. Smith KH, Johns DR, Heher KL, Miller NR (1993) Heteroplasmy in Leber's hereditary optic neuropathy. Arch Ophthalmol 111:1486-1490
36. Sweeney MG, Davis MB, Lashwood A, Brockington M, Toscano A, Harding AE (1992) Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy. Am J Hum Genet 51:741-748
37. van Senus AHC (1963) Leber's disease in the Netherlands. Doc Ophthalmol 17:1-162
38. Vilkki J, Ott J, Savontaus M-L, Aula P, Nikoskelainen EK (1991) Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet 48:486-491
39. Vilkki J, Savontaus M-L, Nikoskelainen EK (1989) Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism. Am J Hum Genet 45:206-211
40. _ (1990) Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy. Am J Hum Genet 47:95-100
41. Wallace DC (1994) Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci USA 91:8739-8746
42. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AMS, Elsas LJ, et al (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-1430
43. Zhu D, Economou EP, Antonarakis SE, Maumenee IH (1992) Mitochondrial DNA mutations and heteroplasmy in type I Leber hereditary optic neuropathy. Am J Med Genet 42:173-179