Variable Clinical Manifestation of Homoplasmic G14459A Mitochondrial DNA Mutation

American Journal of Medical Genetics

Volumn 124 A, Issue 4, 2004, Pages 377-382

  Gropman, Andrea ^a,b   Chen, Tian Jian ^c   Perng, Cherng Lih ^d,f   Krasnewich, Donna ^e   Chernoff, Edith ^e   Tifft, Cynthia ^b   Wong, Lee Jun C ^d  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c UNIVERSITY OF SOUTH ALABAMA   (United States)

^d GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f NATIONAL DEFENSE MEDICAL CENTER   (Taiwan)

Author keywords

G14459A mutation; Mitochondrial disease; MtDNA point mutation

Indexed keywords

ALANINE; GENE PRODUCT; MITOCHONDRIAL DNA; PROTEIN ND6; UNCLASSIFIED DRUG; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CLINICAL FEATURE; DYSTONIA; EXTRAPYRAMIDAL SYNDROME; FEMALE; GENE EXPRESSION; HEMIPARESIS; HUMAN; LACTIC ACIDOSIS; LEBER HEREDITARY OPTIC NEUROPATHY; MITOCHONDRIAL DNA DISORDER; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SPASTICITY;

ANARTHRIA;

EID: 0942279746     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20456     Document Type: Article

References (16)

1. Gregory PE, Gutmann DH, Mitchell A, Park S, Boguski M, Jacks T, Wood DL, Jove R, Collins FS. 1993. Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules. Somat Cell Mol Genet 19:265-274.
2. Gropman AL. 2001. Diagnosis and treatment of childhood mitochondrial diseases. Curr Neurol Nurosci Rep 1:185-194.
3. Gutmann DH, Wu YL, Hedrick NM, Zhu Y, Guha A, Parada LF. 2001. Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes. Hum Mol Genet 10:3009-3016.
4. Johns DR, Smith KH, Savino PJ, Miller NR. 1993. Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation. Ophthalmology 100:981-986.
5. Jun AS, Brown MD, Wallace DC. 1994. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Nat Acad Sci USA 91:6206-6210.
6. Jun AS, Trounce IA, Brown MD, Shoffner JM, Wallace DC. 1996. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol Cell Biol 16:771-777.
7. Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. 2000. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol 48:102-104.
8. Liang MH, Wong L-JC. 1998. Yield of mtDNA mutation analysis in 2000 patients. Am J Med Genet 77:385-400.
9. Lodi R, Montagna P, Cortelli P, Lotti S, Cevoli S, Carelli V, Barbiroli B. 2000. "Secondary" 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation. Brain 123(Pt 9):1896-1902.
10. McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM. 2002. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat Genet 30:145-146.
11. Roudebush M, Slabe T, Sundaram V, Hoppel CL, Golubic M, Stacey DW. 1997. Neurofibromin colocalizes with mitochondria in cultured cells. Exp Cell Res 236:161-172.
12. Shoffner JM, Wallace DC. 1995. Oxidative phosphorylation diseases. In: Scriver CR BA, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. pp 1535-1629.
13. Shoffner JM, Brown MD, Stugard C, Jun AS, Pollock S, Haas RH, Kaufman A, Koontz D, Kim Y, Graham JR, et al. 1995. Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol 38:163-169.
14. Tarnopolsky MA, Baker SK, Myint T, Maxner CE, Robitaille J, Robinson BH. 2003. Clinical heterogeneity in maternally inherited Leber's hereditary optic neuropathy with the G14459A mutation. Am J Med Genet.
15. Wallace DC, Lott MT, Shoffner JM, Brown MD. 1992. Diseases resulting from mitochondrial DNA point mutations. J Inherit Metab Dis 15:472-479.
16. Weiss B, Bollag G, Shannon K. 1999. Hyperactive Ras as a therapeutic target in neurofibromatosis type 1. Am J Med Genet 89:14-22.