Molecular diagnosis using whole exome sequencing have been performed to identify the causative variants. To date only 7 variants including nonsense, frame shift and splice site variants have been reported in the EMC10 gene that means loss of function variants (LOF) could be responsible for the disease phenotype. Missense variants have not been reported so far.
Figure 1: Schematic representation of the EMC10 gene/protein representing position of mutations identified.
