Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects.
Indian J Hum Genet
;
2012 Jan; 18(1): 122-124
Artigo
em Inglês
| IMSEAR
| ID: sea-139458
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Feminino
/
Humanos
/
Aborto Habitual
/
Consanguinidade
/
Número de Gestações
/
Metilenotetra-Hidrofolato Redutase (NADPH2)
/
Adulto Jovem
/
Ácido Fólico
/
Mutação
/
Defeitos do Tubo Neural
Tipo de estudo:
Estudo de etiologia
/
Fatores de risco
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2012
Tipo de documento:
Artigo
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