Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects.
Indian J Hum Genet
;
2012 Jan; 18(1): 122-124
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Femenino
/
Humanos
/
Aborto Habitual
/
Consanguinidad
/
Número de Embarazos
/
Metilenotetrahidrofolato Reductasa (NADPH2)
/
Adulto Joven
/
Ácido Fólico
/
Mutación
/
Defectos del Tubo Neural
Tipo de estudio:
Estudio de etiología
/
Factores de riesgo
Idioma:
Inglés
Revista:
Indian J Hum Genet
Año:
2012
Tipo del documento:
Artículo
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