dc.contributor.author |
Yaliwal, Laxmi V. |
|
dc.contributor.author |
Desai, Rathnamala M. |
|
dc.date.accessioned |
2015-07-28T20:40:10Z |
|
dc.date.available |
2015-07-28T20:40:10Z |
|
dc.date.issued |
2012-01 |
|
dc.identifier.citation |
Indian Journal of Human Genetics. 2012 Jan-Apr: 18(1): 122-124. |
en_US |
dc.identifier.issn |
0971-6866 |
|
dc.identifier.uri |
http://hdl.handle.net/123456789/676 |
|
dc.description.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. |
en_US |
dc.language.iso |
en |
en_US |
dc.publisher |
Wolters Kluwer-Medknow |
|
dc.subject |
Folate |
en_US |
dc.subject |
Methylenetetrahydrofolate reductase gene mutation |
en_US |
dc.subject |
Neural tube defects |
en_US |
dc.title |
Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects |
en_US |
dc.type |
Article |
en_US |