Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

American Journal of Human Genetics

Volumn 65, Issue 2, 1999, Pages 474-482

  White, Sarah L ^a   Collins, Veronica R ^a   Wolfe, Rory ^b   Cleary, Maureen A ^a,d   Shanske, Sara ^c   DiMauro, Salvatore ^c   Dahl, Hans Henrik M ^a   Thorburn, David R ^a,b  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c The New York Presbyterian Hospital   (United States)

^d ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; NUCLEOTIDE;

ARTICLE; CHILD; DISEASE SEVERITY; FEMALE; GENE DOSAGE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HUMAN; MALE; MUTANT; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; RECURRENCE RISK;

EID: 0033362171     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302488     Document Type: Article

References (44)

1. Bartley J, Senadheera D, Park P, Brar H, Abad D, Wong L-J (1996) Prenatal diagnosis of T8993G mitochondrial DNA point mutation in amniocytes by heteroplasmy detection. Am J Hum Genet 59:A316
2. Blok RB, Gook DA, Thorburn DR, Dahl H-HM (1997) Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes. Am J Hum Genet 60:1495-1501
3. Lys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 51:1187-1200
4. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM (1997) Molecular pathology of MELAS and MERRF: the relationship between mutation load and clinical phenotypes. Brain 120:1713-1721
5. Ciafaloni E, Santorelli FM, Shanske S, Deonna T, Roulet E, Janzer C, Pescia G, et al (1993) Maternally inherited Leigh syndrome. J Pediatr 122:419-422
6. de Coo IFM, Smeets HJM, Gabreels FJM, Arts N, van Oost BA (1996) Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation. Am J Hum Genet 58:636-638
7. Degoul F, Diry M, Rodriguez D, Robain O, Francois D, Ponsot G, Marsac C, et al (1995) Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA 8993G point mutation. J Inher Metab Dis 18:682-688
8. Degoul F, Francois D, Diry M, Ponsot G, Desguerre I, Heron B, Marsac C, et al (1997) A near homoplasmic 8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues. J Inher Metab Dis 20: 49-53
9. de Vries DD, van Engelen BG, Gabreels FJ, Ruitenbeek W, van Oost BA (1993) A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol 34:410-412
10. Ferlin T, Landrieu P, Rambaud C, Fernandez H, Dumoulin R, Rustin P, Mousson B (1997) Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. J Pediatr 131:447-449
11. Fryer A, Appleton R, Sweeney MG, Rosenbloom L, Harding AE (1994) Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy.' Arch Dis Child 71:419-422
12. 8993T→G disease. Am J Hum Genet 50:629-633
13. Hauswirth WW, Laipis PJ (1982) Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows. Proc Natl Acad Sci USA 79:4686-4690
14. 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
15. Houstek J, Klement P, Hermanska J, Houstkova H, Hansikova H, van den Bogert C, Zeman J (1995) Altered properties of mitochondrial ATP-synthase in patients with a T→G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA. Biochim Biophys Acta 1271:349-357
16. Howell N (1983) Origin, cellular expression, and cybrid transmission of mitochondrial CAP-R, PYR-IND, and OLI-R mutant phenotypes. Somatic Cell Genet 9:1-24
17. Klement P, Zeman J, Hansikova H, Houstkova H, Baudysova M, Houstek J (1994) Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis. J Inher Metab Dis 17:249-250
18. 31P-magnetic resonance spectroscopy in NARP syndrome. J Neurol Neurosurg Psychiatry 57: 1492-1496
19. Mak SC, Chi CS, Liu CY, Pang CY, Wei YH (1996) Leigh syndrome associated with mitochondrial DNA 8993 T→G mutation and ragged-red fibers. Pediatr Neurol 15:72-75
20. Makela-Bengs P, Suomalainen A, Majander A, Rapola J, Kalimo H, Nuutila A, Pihko H (1995) Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. Pediatr Res 37:634-639
21. Ortiz RG, Newman NJ, Shoffner JM, Kaufman AE, Koontz DA, Wallace DC (1993) Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. Arch Ophthalmol 111:1525-1530
22. Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP (1994) Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). Am J Med Genet 50: 265-271
23. Poulton J, Macaulay, V, Marchington DR (1998) Is the bottleneck cracked? Am J Hum Genet 62:752-757
24. Poulton J, Morten K (1993) Noninvasive diagnosis of the ME-LAS syndrome from blood DNA. Ann Neurol 34:116
25. Puddu P, Barboni P, Mantovani V, Montagna P, Cerullo A, Bragliani M, Molinotti C, et al (1993) Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family. Br J Ophthalmol 77:84-88
26. Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, et al (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39:343-351
27. Rashash J, Yang M, Woodhouse G, Goldstein H (1995) MLn: command reference guide. Institute of Education, London
28. Sakuta R, Goto Y, Horai S, Ogino T, Yoshinaga H, Ohtahara S, Nonaka I (1992) Mitochondrial DNA mutation and Leigh's syndrome. Ann Neurol 32:597-598
29. Lys gene (G8363A). Am J Hum Genet 58:933-939
30. Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S (1994) A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology 44:972-974
31. Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S (1993) The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 34: 827-834
32. Santorelli FM, Tanji K, Shanske S, DiMauro S (1997) Heterogeneous clinical presentation of the mtDNA NARP/ 8993G mutation. Neurology 49:270-273
33. Seller A, Kennedy CR, Temple IK, Brown GK (1997) Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA. J Inherit Metab Dis 20:102-103
34. Shoffner JM, Fernhoff PM, Krawiecki NS, Caplan DB, Holt PJ, Koontz DA, Takei Y, et al (1992) Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. Neurology 42:2168-2174
35. Shoffner JM, Wallace DC (1995) Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The molecular and metabolic bases of inherited diseases, vol I. McGraw-Hill, New York, pp 1535-1610
36. Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JTR, Wherret J, Smith C, Rudd N, et al (1992) Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 50:852-858
37. Tatuch Y, Robinson BH (1993) The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem Biophys Res Commun 192:124-128
38. Tulinius MH, Houshmand M, Larsson NG, Holme E, Oldfors A, Holmberg E, Wahlstrom J (1995) De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring. Hum Genet 96:290-294
39. Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M (1997) Mitochondrial disease associated with the 8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 63:16-22
40. van Erven PM, Gabreels FJ, Ruitenbeek W, Renier WO, Lamers KJ, Sloof JL (1987) Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain. J Neurol 234:215-219
41. Vazquez-Memije ME, Shanske S, Santorelli FM, Kranz EP, Davidson E, DeVivo DC, DiMauro S (1996) Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome, J Inherit Metab Dis 19:43-50
42. Yoneda M, Miyatake T, Attardi G (1995) Heteroplasmic mitochondrial tRNA(Lys) mutation and its complementation in MERRF patient-derived mitochondrial transformants. Muscle Nerve 3:S95-101
43. Yoshinaga H, Ogino T, Ohtahara S, Sakuta R, Nonaka I, Horai S (1993) A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome. J Child Neurol 8:129-133
44. White SL, Shanske S, McGill JJ, Mountain H, Geraghty MT, DiMauro S, Dahl HHM, et al (1999) Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue or age-related variation. J Inherit Metab Dis (in press)