Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects

• Published in: Indian journal of human genetics Vol. 18; no. 1; pp. 122 - 124
• Main Authors: Yaliwal, Laxmi V, Desai, Rathnamala M
• Format: Journal Article
• Language: English
• Published: India Medknow Publications on behalf of Indian Society of Human Genetics 01-01-2012; Medknow Publications and Media Pvt. Ltd; Medknow Publications & Media Pvt. Ltd; Medknow Publications & Media Pvt Ltd
• Subjects: Abnormalities; Case Report; Folate, methylenetetrahydrofolate reductase gene mutation, neural tube defects; Gene mutations; Genes; Genetics; Karyotypes; Karyotyping; Mutation; Neural tube; Physiological aspects; Vitamin B; India; methylenetetrahydrofolate reductase gene mutation; neural tube defects; Folate
• ISSN: 0971-6866; 1998-362X
• 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.