title: Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects.
abstract: We report the analysis of the distribution of the C677T mutation on the methylenetetrahydrofolate reductase (MTHFR) gene in prenatally diagnosed neural tube defects (NTD) cases and controls. In contrast to previous reports, we found the same distribution in fetuses with NTD and controls, which suggests that the MTHFR C677T mutation cannot be regarded as a genetic risk factor for NTD.
authors.affiliation: Laboratoire de Cytogénétique et Génétique Moléculaire Humaine, Université de Versailles-Saint Quentin, France. Etienne.Mornet@cytogene.uvsq.fr
authors.forename: E
authors.initials: E
authors.lastname: Mornet
authors.forename: F
authors.initials: F
authors.lastname: Muller
authors.forename: A
authors.initials: A
authors.lastname: Lenvoisé-Furet
authors.forename: A L
authors.initials: AL
authors.lastname: Delezoide
authors.forename: J Y
authors.initials: JY
authors.lastname: Col
authors.forename: B
authors.initials: B
authors.lastname: Simon-Bouy
authors.forename: J L
authors.initials: JL
authors.lastname: Serre
mesh_terms: D000757:Anencephaly / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D016022:Case-Control Studies; D005333:Fetus; D005602:France; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008591:Meningomyelocele / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D011296:Prenatal Diagnosis; D012189:Retrospective Studies
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)