Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

• Published in: Human genetics Vol. 100; no. 5-6; pp. 512 - 514
• Main Authors: MORNET, E, MULLER, F, LENVOISE-FURET, A, DELEZOIDE, A.-L, COL, J.-Y, SIMON-BOUY, B, SERRE, J.-L
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.10.1997; Berlin; New York, NY
• Subjects: Anencephaly - diagnosis; Anencephaly - enzymology; Anencephaly - genetics; Biological and medical sciences; Case-Control Studies; Diseases of the osteoarticular system; Fetus; France; Gene Frequency; Genotype; Humans; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Meningomyelocele - diagnosis; Meningomyelocele - enzymology; Meningomyelocele - genetics; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors - genetics; Point Mutation - genetics; Prenatal Diagnosis; Retrospective Studies; France; Anencephaly; Human; Methylenetetrahydrofolate reductase (NADPH); Nervous system diseases; Enzyme; Deficiency; Diseases of the osteoarticular system; Spine disease; Congenital disease; Cerebral disorder; Spina bifida; Association; Neural tube; Gene; Malformation; Central nervous system disease; Risk factor; Oxidoreductases; Mutation
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s004390050544

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.