Patient-derived hiPSC neurons with heterozygous CNTNAP2 deletions display altered neuronal gene expression and network activity

We queried the expression of CNTNAP2 in Ngn2-induced neurons from each member of this family trio, hypothesizing that heterozygous intragenic deletions may affect the expression of CNTNAP2. RNA was harvested after 21 days of Ngn2-induction. The New York Genome Center prepared RNAseq libraries using the KAPA Total 350bp kit, followed by 2x125bp Illumina RNA sequencing to a read depth of 40M reads per sample on the HiSeq 2500.