Sequence variants in the promoter and the 3’ untranslated region of PDGFRA gene have been identified to be associated with a number of human congenital developmental anomalies, which includes cleft palate [18], neural tube defects (spina bifida and anencephaly) [19–23], corneal astigmatism [24], and heart inflow tract defects [25], and some of these sequence variants affected the PDGFRA gene expression [18, 23]. The gene discussed is PDGFRA; the disease is spina bifida.