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Genomics|HuGENet|Reviews|MTHFR Gene and Congenital Anomalies|PubMed ID: 10791559 (5553 words) |
 | Two MTHFR variants, however, the C677T and the A1298C mutations, are common in many populations and have been studied in relation to birth defects, mainly spina bifida and anencephaly. |
| The expansion of MTHFR studies to other birth defects could be fruitful in light of the reports that the use of folic acid or multivitamins can be associated with a reduced occurrence of several types of birth defects, including some heart defects, oral clefts, urogenital anomalies, and limb deficiencies. |
| The fraction of NTD cases attributable to the known MTHFR alleles is low and does not account for the 50 to 70% reduction in NTD occurrence resulting from the use of folic acid or multivitamins as observed in clinical trials. |
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MTHFR - 5,10-methylenetetrahydrofolate reductase (NADPH) - Genetics Home Reference (741 words) |
| homocystinuria - caused by mutations in the MTHFR gene |
| A specific version (variant) of the MTHFR gene may increase the risk of cardiovascular disease and certain kinds of birth defects. |
| The MTHFR gene is located on the short (p) arm of chromosome 1 at position 36.3. |
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