Whole Exon Sequencing (WES) is a novel method to identify pathogenic mutations in the heterogeneous genetic diseases that means several genes are involved in causing one disease. In this research, the whole exon sequencing test was performed in an aborted fetus resulting from a consanguineous marriage, and after filtering the variants, suspicious variants were analyzed and interpreted.In this study, in addition to identifying the homozygous mutation in KIF7 gene that led to abortion and adapted with clinical findings in aborted fetus; We also detected 8 mutations that could potentially result in abortion. These mutations include NF1:c.2893A>T; SCN8A:c.2726A>G; RINT1:c.165T>A; POLR3A:c.1909+22G>NCAPD3:c.4468_4480del;OTOGL:c.4702G>T; LDOA:c.226C>T; KIF14:c.2125G>A. Of course, these mutations were heterozygous and were categorized as Pathogenic, Likely Pathogenic, VUS. Our observations show the importance of genetic counseling and whole exome sequencing (WES) in families with recurrent miscarriages.
