In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C > A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive APH in an Indian family.
The interaction of COMT rs737865 and MTHFRC677T was associated with an increased risk of NTDs, especially anencephaly, in a Chinese population with a high prevalence of NTDs.
Effect on risk of anencephaly of gene-nutrient interactions between methylenetetrahydrofolate reductaseC677T polymorphism and maternal folate, vitamin B12 and homocysteine profile.
These preliminary data suggest that the 677C-->T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD.
Strain-specific modifier genes of Cecr2-associated exencephaly in mice: genetic analysis and identification of differentially expressed candidate genes.
Although no significant differences in rs202676 genotype or allele frequencies were found between the NTD and control groups, the combined AG+GG genotype group was significantly associated with anencephaly (p = 0.03, OR = 2.11, 95% CI, 1.11-4.01), but not with spina bifida or encephalocele.
These preliminary data suggest that the 677C-->T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD.
We wanted to find out if the risk of isolated hydrocephalus was greater in families with NTD (anencephaly and spina bifida) from 424 families studied between 1975 and 1984 in Brittany.