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Figure 3 | Molecular Autism

Figure 3

From: Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

Figure 3

Segregation analysis by Sanger sequencing and Integrative Genomics Viewer (IGV) pileups in two trios. (A) de novo mutation (c.239-21G > C) found in the PTEN gene by exome sequencing and the aberrant transcript detected by transcriptome sequencing. (B) Paternal inherited mutation that disrupts a splicing donor site in POLR3C gene (c.104 + 1G > A) causing retention of an intron.

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