| CASE REPORT |
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| Year : 2012 | Volume
: 18
| Issue : 1 | Page : 122-124 |
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Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects
Laxmi V Yaliwal, Rathnamala M Desai
Department of Obstetrics and Gynaecology, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka, India
Correspondence Address:
Laxmi V Yaliwal
#28, 'Vatsalya', Dharmapur Extension, Srinagar Cross, Unkal, Hubli - 580 031, Karnataka
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/0971-6866.96680
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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. |
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