Prenatal diagnosis using next-generation sequencing in genetic counseling: Novel mutations in three large Iranian families: A case series

For cases with DD and unexplained ID, WES is a very successful diagnostic approach. Unfortunately, large Iranian families exhibit significant genetic heterogeneity, highlighting the critical role of de novo variants in diagnosis. The results of this study confirm that proteins inositol deacylase 1, malate dehydrogenase 1, and lysosomal trafficking regulatorare involved in the pathophysiology of ID/DD and the transformative potential of prenatal genetic screening.