Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Figure 3
Genetic alterations identified in the control subject SWE_Q56_508.
A. SHANK2 splice mutation (IVS22+1G>T) detected in a Swedish female control, SWE_Q56_508. The mutation altered the donor splicing site of exon 22 and led to a premature stop in all SHANK2 isoforms except for the AF1411901 isoform, where it altered the protein sequence (G263V). B. CNVs in the same individual altering LOC339822, SNTG2, PXDN and MYT1L. The two close duplications span 264 kb and 245 kb on chromosome 2 and altered LOC339822 and SNTG2, and PXDN and MYT1L, respectively. Dots show the B allele frequency (BAF; in green), Log R ratio (LRR; in red), and QuantiSNP score (in blue). Lower panel: all CNVs listed in the Database of Genomic Variants (DGV) are represented: loss (in red), gain (in blue), gain or loss (in brown). H, homer binding site; D, dynamin binding site; C, cortactin binding site.