Erratum to: Notomelia and related neural tube defects in a baby born in Niger: case report and literature review

Abstract

In the original publication of this article, we wrote "Although the allele prevalence of this V311A NHLRC2 mutation in the registered Angus cattle population was only 16% at the time, eleven of 13 consecutive cases with NTD related lesions were homozygous for the NHLRC2 mutation, demonstrating a causal association (Denholm et al., 2015)."In fact, Denholm et al. (2015) stated that the allele prevalence in the registered Angus cattle population in Australia in which the eleven consecutive NTD cases were observed was 7% at the time. (Correlation between the detected NHLRC2 mutation and the observed NTD related phenotypes is higher at the lower (corrected) allele prevalence value.)The online version of the original article can be found at http://dx

Study on the relationship between genetic polymorphism of reductive folic acid carrier and the risk of neural tube defects

“…Therefore, association studies about folic acid metabolism and birth defects have attracted increasing attention [ 9 ]. Folate metabolism involves a variety of enzymes; the key enzymes mainly include 5,10-methylene tetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), and cysteine synthase (CBS), among which MTHFR and MTR are two key enzymes involved in folate activation and methyl donor generation [ 10 ]. The genes of the enzymes have single nucleotide polymorphisms in the population, which can change the enzyme activity and cause abnormal folate synthesis and metabolism in vivo, thus leading to DNA synthesis disorders and DNA methylation abnormalities, which may lead to birth defects [ 11 ].…”