Autism patient derived SHANK2BY29X mutation affects ALDH1A1 negative dopamine neuron development
Autism spectrum disorder (ASD) includes a series of neurodevelopmental conditions. Different mutations on a single ASD gene contribute to heterogeneous disease phenotypes, possibly due to functional diversity of generated isoforms. Increasing evidence indicates such phenomenon in SHANK2, a causative gene in ASD; however, there is a scarcity of tools for studying endogenous SHANK2 proteins in an isoform-specific manner. Here we reported a patient-derived mutation on SHANK2, hitting only the SHANK2B transcript variant (NM_133266.5), hereby SHANK2BY29X. Overall design: We conducted an analysis of the transcriptome of an autism patient clone (PC1) and his unaffected father (HC1) during 9 days of neural induction from induced pluripotent stem cells (iPSCs). ***Submitter declares that the RNA-seq raw data is not provided due to patient privacy concerns*** ***Submitters state that the result of the scRNA-seq seq bam file viewed in IGV is included in the associated manuscript (i.e. no quantified processed data for scRNA-seq samples).