Molecular diagnosis using whole exome sequencing have been performed to identify the causative variants. To date only 2 variants including frame shift and splice site variants have been reported in the RAP1GDS1 gene that means loss of function variants (LOF) could be responsible for the disease phenotype. Missense variants have not been reported so far. The splice site variant (c.1444-1G>A; p.?) have been the most commonly reported variant from Saudi population; thus, representing hotspot mutation.