Abstract:
Methylenetetrahydrofolate reductase (MTHFR) gene
mutations have been implicated as risk factors for neural
tube defects (NTDs). The best-characterized MTHFR
genetic mutation 677C→T is associated with a 2–4 fold
increased risk of NTD if patient is homozygous for this
mutation. This risk factor is modulated by folate levels in
the body. A second mutation in the MTHFR gene is an
A→C transition at position 1298. The 1298A→C mutation
is also a risk factor for NTD, but with a smaller relative risk
than 677C→T mutation. Under conditions of low folate
intake or high folate requirements, such as pregnancy,
this mutation could become of clinical importance. We
present a case report with MTHFR genetic mutation, who
presented with recurrent familial pregnancy losses due to
anencephaly/NTDs.
