PMID: 11913566Mar 27, 2002Paper

Presence of the 5,10-methylenetetrahydrofolate reductase C677T mutation in Puerto Rican patients with neural tube defects

Journal of Child Neurology
Lourdes García-FragosoCarmen L Cadilla

Abstract

Folic acid supplementation can reduce the incidence of neural tube defects. The first reported genetic risk factor for neural tube defects is a C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene, resulting in decreased activity of the enzyme. We examined the enzyme mutation role of methylenetetrahydrofolate reductase in the etiology of neural tube defects in our population. The study group consisted of 204 Puerto Rican individuals including 37 pregnant females with a prenatal diagnosis of neural tube defects in their fetuses, 31 newborns, 36 fathers, and 100 healthy adults. The prevalence of the C677T mutation was examined. Homozygosity for the alanine to valine substitution (TT) was observed in 9% of the controls and 19% of the mothers with children with neural tube defects. Our results indicate that the presence of the T allele at the methylenetetrahydrofolate reductase 677 position may increase the risk of giving birth to an infant with a neural tube defect.

References

Jun 1, 1992·The Journal of Pediatrics·L B Holmes
Nov 24, 1989·JAMA : the Journal of the American Medical Association·A MilunskyW Willett
Dec 2, 1988·JAMA : the Journal of the American Medical Association·J MulinareR J Berry
Feb 1, 1997·QJM : Monthly Journal of the Association of Physicians·N M van der PutH J Blom

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Citations

Jul 10, 2007·American Journal of Medical Genetics. Part a·Márcia R AmorimIêda M Orioli
Jan 12, 2010·American Journal of Obstetrics and Gynecology·Allison S BryantA Eugene Washington

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