Figure 5: Genetic identification of genes involved in Contactins-NYAPs-WAVE1 pathway.
From: Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort
Disruption of Contactin gene, CNTN4, was recurrently identified in this study and other studies. Case-private rare CNV disrupting NYAP2 was also detected in this study. Red bars indicate deletions. The pedigree plots of SSC families with recurrent de novo mutations of NCKAP1 and ABI2 were presented. Orange arrows indicated the mutation location.
