Short Abstract
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Of all the neural tube defects (NTDs), Spina Bifida is one of the most common with a complex etiology. NTDs are known to be among the most severe and common human birth defects, of which spina bifida and anencephaly are commonest. It has complex etiology and involves both environmental and genetic factors. The present study was conducted amongst 200 familial control samples and sequenced FZD61 gene for all the samples. The study revealed 2 novel mutations (p<0.0001). The study thereby demonstrates that rare non-synonymous variants of FZD6 may contribute to NTDs in human and enlarges the spectrum of mutations. Thereby, it envisages an insight into the understanding of the etiology of NTDs. Future directions such as genome-wide association studies (GWAS) and exome sequencing can be useful to detect more variants associated to the disease.
