Pediatric stroke and methylenetetrahydrofolate reductase polymorphisms: An examination of C677T and A1298C mutations

Journal of Pediatric Hematology/Oncology

Volumn 27, Issue 11, 2005, Pages 590-593

  Rook, James L ^a   Nugent, Diane J ^a   Young, Guy ^a  

^a CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

Author keywords

Homocysteine; MTHFR; Stroke

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); HOMOCYSTEINE;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HOMOZYGOSITY; HUMAN; MALE; MEDICAL RECORD; PEDIATRIC HOSPITAL; PRIORITY JOURNAL; RETROSPECTIVE STUDY; STROKE;

CEREBROVASCULAR ACCIDENT; CHILD; CHILD, PRESCHOOL; FEMALE; HOMOCYSTEINE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION, MISSENSE; POLYMORPHISM, GENETIC; RETROSPECTIVE STUDIES;

EID: 28144462662     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/01.mph.0000188119.33452.fd     Document Type: Article

References (26)

1. Lynch JK, Hirtz DG, deVeber G, et al. Report of the National Institute of Neurological Disorders and Stroke Workshop on Perinatal and Childhood Stroke. Pediatrics. 2002;109:116.
2. Schoenberg B, Mellinger J, Schoenberg D. Cerebrovascular disease in infants and children: a study of incidence, clinical features, and survival. Neurology. 1978;28:763.
3. deVeber G, Andrew M. Canadian PediatricIschemic Stroke Registry [abstract]. 29th Canadian Congress of Neurological Sciences, 1994.
4. Eeg-Olofsson O, Ringheim Y. Stroke in children. Clinical characteristics and prognosis. Acta Paediatr Scand. 1983;72:391.
5. Nicolaides P, Appelton RE. Stroke in children. Dev Med Clin Neurol. 1996;38:173.
6. Dashe JF, Boyer PJ. Case records of the Massachusetts General Hospital. N Engl J Med. 1998;339:1914.
7. Bonduel M, Sciuccati G, Hepner M, et al. Prethrombotic disorders in children with arterial ischemic stroke and sinovenous thrombosis. Arch Neurol. 1999;56:967.
8. deVeber G, Mongale P, Chan A, et al. Prothrombotic disorders in infants and children with cerebral thromboembolism. Arch Neurol. 1998;55:1539.
9. Golomb MR, MacGregor DL, Domi T, et al. Presumed pre- or perinatal arterial ischemic stroke: risk factors and outcomes. Ann Neurol. 2001;50:163.
10. Becker S, Heller C, Gropp F, et al. Thrombophilic disorders in children with cerebral infarction. Lancet. 1998;352:1756.
11. Nowak-Gottl U, Strater R, Heinecke A, et al. Lipoprotein (a) and genetic polymorphisms of clotting factor V, prothrombin, and methylenetetrahydrofolate reductase are risk factors of spontaneous ischemic stroke in childhood. Blood. 1999;94:3678.
12. Gansean V, Kelsey H, Cookson J, et al. Activate protein C resistance in childhood stroke. Lancet. 1996;347:260.
13. Zenz W, Bodo Z, Photho J, et al. Factor V Leiden and prothrombin G20210A variant in children with stroke. Thromb Haemost. 1998;80:763.
14. McColl MD, Chalmers EA, Thomas A, et al. Factor V Leiden, prothrombin 20210G and the MTHFR C677T mutations in childhood stroke. Thromb Haemost. 1999;81:690.
15. Kenet G, Sadetzki S, Murad H, et al. Factor V Leiden and antiphospholipid antibodies are significant risk factors for ischemic stroke in children. Stroke. 2000;31:1283.
16. Gunther G, Junker R, Strater R, et al. Symptomatic ischemic stroke in full-term neonates: role of acquired and genetic prothrombotic risk factors. Stroke. 2000;31:2437.
17. Heller C, Becker S, Scharrer I, et al. Prothrombotic risk factors in childhood stroke and venous thrombosis. Eur J Pediatr. 1999;158(suppl):S117.
18. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995;10:111.
19. Brattstrom L, Lindgren A. Hyperhomocysteinemia as a risk factor for stroke. Neurol Res. 1992;14:81.
20. Kluijtsmans LAJ, Heuval van den LPWJ, Boers GHJ, et al. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet. 1996;58:35.
21. Jacques PF, Bostom AG, Williams RR, et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation. 1996;93:7.
22. Cardo E, Monros E, Colome C, et al. Children with stroke: polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status. J Child Neurol. 2000;15:295.
23. van der Put NMJ, Gabreels F, Stevens EMB, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet. 1998;62:1044.
24. Weiseberg I, Tran P, Christensen B, et al. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab. 1998;64:169.
25. Isotalo PA, Wells GA, Donnelly JG. Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations. Am J Hum Genet. 2000;67:986.
26. Van der Griend R, Haas FJ, Duran M, et al. Methionine test necessary for detection of hyperhomocysternemia. J Lab Clin Med. 1998;132:67.