Identification of Three Novel Mutations in the FANCA , FANCC , and ITGA2B Genes by Whole Exome Sequencing

Various blood diseases are caused by mutations in the , , and genes. Exome sequencing is a suitable method for identifying single-gene disease and genetic heterogeneity complaints. Among families who were referred to Narges Genetic and PND Laboratory in 2015-2017, five families with a history of blood diseases were analyzed using the whole exome sequencing (WES) method. We detected two novel mutations (c.190-2A>G and c.2840C>G) in the gene, c. 1429dupA mutation in the gene, and c.1392A>G mutation in the gene. The prediction of variant pathogenicity has been done using bioinformatics tools such as Mutation taster PhD-SNP and polyphen2 and were confirmed by Sanger sequencing. WES could be as a precise tool for identifying the pathologic variants in affected patient and heterozygous carriers among families. This highly successful technique will remain at the forefront of platelet and blood genomic research.