Yaliwal Laxmi V, Desai Rathnamala M
Department of Obstetrics and Gynaecology, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka, India.
Indian J Hum Genet. 2012 Jan;18(1):122-4. doi: 10.4103/0971-6866.96680.
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.
亚甲基四氢叶酸还原酶（MTHFR）基因突变被认为是神经管缺陷（NTDs）的风险因素。特征最明确的MTHFR基因突变677C→T，如果患者是该突变的纯合子，则患NTD的风险会增加2至4倍。这种风险因素会受到体内叶酸水平的调节。MTHFR基因的第二个突变是第1298位的A→C转换。1298A→C突变也是NTD的一个风险因素，但相对风险比677C→T突变小。在叶酸摄入量低或叶酸需求量高的情况下，如怀孕，这种突变可能具有临床重要性。我们报告一例患有MTHFR基因突变的病例，该患者因无脑儿/神经管缺陷导致反复家族性流产。
