Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay

Molecular Genetics and Metabolism

Volumn 85, Issue 2, 2005, Pages 115-120

  Morel, Chantal F ^a   Scott, Patrick ^a   Christensen, Ernst ^b   Rosenblatt, David S ^a   Rozen, Rima ^a  

^a MCGILL UNIVERSITY   (Canada)

^b Rigshopitalet ^*  (Denmark)

Author keywords

Folate; Homocysteine; Homocystinuria; Linkage analysis; Methylenetetrahydrofolate reductase; MTHFR; Prenatal diagnosis

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

AMNION CELL; ARTICLE; CASE REPORT; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA POLYMORPHISM; ENZYME ACTIVITY; ENZYME ANALYSIS; FEMALE; HIGH RISK POPULATION; HUMAN; INBORN ERROR OF METABOLISM; INTERMETHOD COMPARISON; LINKAGE ANALYSIS; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ENZYME TESTS; FAMILY; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 19444364317     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.03.001     Document Type: Article

References (23)

1. D.S. Rosenblatt, and R.W. Erbe Inherited disorders of folate and cobalamin transport and metabolism C.R. Scriver A.L. Beaudet W.S. Sly D. Valle B. Childs K.W. Kinzler The metabolic & molecular bases of inherited disease eighth ed. 2001 McGraw-Hill New York 3897 3933
2. M.A. Thomas, and D.S. Rosenblatt Severe methylenetetrahydrofolate reductase deficiency P.M. Ueland R. Rozen MTHFR Polymorphisms and Disease 2004 Landes Bioscience/Eurekah.com Georgetown, TX 41 53
3. D.S. Rosenblatt Methylenetetrahydrofolate reductase Clin. Invest. Med. 24 2001 56 59
4. U. Wendel, U. Claussen, and E. Diekmann Prenatal diagnosis for methylenetetrahydrofolate reductase deficiency J. Pediatr. 102 1983 938 940
5. Y.S. Shin, G. Pilz, and W. Endres Methylenetetrahydrofolate reductase and methylenetetrahydrofolate methyltransferase in human fetal tissues and chorionic villi J. Inherit. Metab. Dis. 9 suppl. 2 1986 275 276
6. E. Christensen, and N.J. Brandt Prenatal diagnosis of 5,10-methylenetetrahydrofolate reductase deficiency N. Engl. J. Med. 313 1 1985 50 51
7. J. Marquet, B. Chadefaux, J.P. Bonnefont, J.M. Saudubray, and J. Zittoun Methylenetetrahydrofolate reductase deficiency: prenatal diagnosis and family studies Prenat. Diagn. 14 1994 29 33
8. C. Tonetti, A. Burtscher, D. Bories, M. Tulliez, and J. Zittoun Methylenetetrahydrofolate reductase deficiency in four siblings: a clinical, biochemical, and molecular study of the family Am. J. Med. Genet. 91 2000 363 367
9. C. Tonetti, J.M. Saudubray, B. Echenne, P. Landrieu, S. Giraudier, and J. Zittoun Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency Eur. J. Pediatr. 162 2003 466 475
10. B. Fowler, and C. Jakobs Post- and prenatal diagnostic methods for the homocystinurias Eur. J. Pediatr. 157 suppl. 2 1998 S88 S93
11. P. Goyette, J.S. Sumner, R. Milos, A.M. Duncan, D.S. Rosenblatt, R.G. Matthews, and R. Rozen Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification Nat. Genet. 7 1994 195 200
12. P. Goyette, P. Frosst, D.S. Rosenblatt, and R. Rozen Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe MTHFR deficiency Am. J. Hum. Genet. 56 1995 1052 1059
13. P. Goyette, B. Christensen, D.S. Rosenblatt, and R. Rozen Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of 5 novel mutations in MTHFR Am. J. Hum. Genet. 59 1996 1268 1275
14. L.A. Kluijtmans, U. Wendel, E.M. Stevens, L.P. van den Heuvel, F.J. Trijbels, and H.J. Blom Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency Eur. J. Hum. Genet. 6 1998 257 265
15. S. Sibani, B. Christensen, E. O'Ferrall, I. Saadi, F. Hiou-Tim, D.S. Rosenblatt, and R. Rozen Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria Hum. Mutat. 15 2000 280 287
16. C. Tonetti, J. Amiel, A. Munnich, and J. Zittoun Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study J. Inherit. Metab. Dis. 24 2001 833 842
17. A. Homberger, M. Linnebank, A. Sewell, T. Suormala, B. Fowler, and H.G. Koch Severe methylenetetrahydrofolate reductase deficiency: two novel genotypes with different clinical course J. Inherit. Metab. Dis. 24 suppl. 1 2001 50 (abstract)
18. D. Leclerc, S. Sibani, and R. Rozen Molecular biology of methylenetetrahydrofolate reductase (MTHFR) and overview of mutations/ polymorphisms P.M. Ueland R. Rozen MTHFR Polymorphisms and Disease 2004 Landes Bioscience/Eurekah.com Georgetown, TX 1 20
19. S. Sibani, D. Leclerc, I. Weisberg, E. O'Ferrall, D. Watkins, C. Artigas, D.S. Rosenblatt, and R. Rozen Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation Hum. Mutat. 21 2003 509 520
20. H. Yano, K. Nakaso, K. Yasui, Y. Wakutani, H. Nakayasu, H. Kowa, Y. Adachi, and K. Nakashima Mutations of the MTHFR gene (428C > T and [458G > T+459C > T]) markedly decrease MTHFR enzyme activity Neurogenetics 5 2004 135 140
21. P. Frosst, H.J. Blom, R. Milos, P. Goyette, C.A. Sheppard, R.G. Matthews, G.J. Boers, M. den Heijer, L.A. Kluijtmans, and L.P. van den Heuvel A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase Nat. Genet. 10 1995 111 113
22. I. Weisberg, P. Tran, B. Christensen, S. Sibani, and R. Rozen A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity Mol. Genet. Metab. 64 1998 169 172
23. D.S. Rosenblatt, and R.W. Erbe Methylenetetrahydrofolate reductase in cultured human cells. II. Genetic and biochemical studies of methylenetetrahydrofolate reductase deficiency Pediatr. Res. 11 1977 1141 1143