Investigation of genetic data in patients with neural tube defects

Neural tube defects (NTD), one of the complex and heterogeneous anomalies of the central nervous system, are anomalies that are characterized by impaired development of the central nervous system and occur due to incomplete closure of the neural tube in the embryo. In this study, it was aimed to analyze the genetic etiologies of whole exome sequencing (WES) data in nine cases diagnosed with NTD. The phenotype correlation of a total of 30 variants thought to cause NTD and other accompanying pathological phenotypes was evaluated in nine cases. This study supported the conclusion that due to the multifactorial nature of NTDs, doped genes occur when more than one gene interrupts any of the pathways in neural tube formation. Our study reveals the necessity of evaluating the differential diagnosis of NTD in a wide range and the contribution of comprehensive molecular analyzes such as WES in differential diagnosis. In order to evaluate the effectiveness of WES analysis in determining the etiology of NTD, analyzes and functional studies in larger patient groups are needed.