title: Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.
abstract: Periconceptional folate supplementation reduces the risk of neural-tube defects. We studied the frequency of the 677C-->T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in 55 patients with spina bifida and parents of such patients (70 mothers, 60 fathers). 5% of 207 controls were homozygous for the 677C-->T mutation compared with 16% of mothers, 10% of fathers, and 13% of patients. The mutation was associated with decreased MTHFR activity, low plasma folate, and high plasma homocysteine and red-cell folate concentrations. The 677C-->T mutation should be regarded as a genetic risk factor for spina bifida.
authors.affiliation: Department of Pediatrics, University Hospital Nijmegen, Netherlands.
authors.forename: N M
authors.initials: NM
authors.lastname: van der Put
authors.forename: R P
authors.initials: RP
authors.lastname: Steegers-Theunissen
authors.forename: P
authors.initials: P
authors.lastname: Frosst
authors.forename: F J
authors.initials: FJ
authors.lastname: Trijbels
authors.forename: T K
authors.initials: TK
authors.lastname: Eskes
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: E C
authors.initials: EC
authors.lastname: Mariman
authors.forename: M
authors.initials: M
authors.lastname: den Heyer
authors.forename: R
authors.initials: R
authors.lastname: Rozen
authors.forename: H J
authors.initials: HJ
authors.lastname: Blom
mesh_terms: D000328:Adult; D005260:Female; D005492:Folic Acid / Q000097:blood; D005787:Gene Frequency; D006710:Homocysteine / Q000097:blood; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D017354:Point Mutation; D012307:Risk Factors; D016135:Spinal Dysraphism / Q000235:genetics*
chemical_list: D006710:Homocysteine; D005492:Folic Acid; D000587:Oxidoreductases Acting on CH-NH Group Donors