SNAP29 and autism spectrum disorder: The atypical nested LCR22 B-D duplications are associated with an increased risk for neurodevelopmental phenotypes particularly autism spectrum disorder (ASD) [18]; suggesting the critical genes related with these neurodevelopmental phenotypes including ASD may be located between LCR22 B and LCR22 D. We performed NGS on the patient with LCR22 C-D duplication, who was clinically diagnosed with autism and found a 0.36 Mb duplication containing SNAP29 and SERPIND1 genes.