GIGYF2 interacts with GRB10 involving in modulation of IGF signaling pathway and its downstream ERK signaling pathway.Candidate sequencing was accomplished by MIP and 2 de novo mutations(c.1024G >T,c.1972A >G)were identified.According to previous studies,3 missense mutations and 2 nonsense mutations have been reported.De novo mutation ratio of GIGYF2 increases(1.78E-05)calculated by Exon mutation rate model.Transient transfection of 293T cell with WT and three missense mutated GIGYF2 plasmids indicate that P1155R and A637T mutated proteins are located in endocytic vesicles which are like WT protein,however,R956Q mutated protein locates in autophagosome.Expression of mutated proteins drops compared with WT by WB.We intend to explore(1)half life period and degeneration pathway of GIGYF2;(2)interaction with GRB10 and its modulation to downstream IGF signaling pathway;(3)location of GIGYF2 WT and mutated proteins in neuron and their potential contributions to neuron developments.These study will illuminate the contribution of GIGYF2 to the etiology of autism,which provide targets for further autism therapy.