Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study

De novo mutated ADNP is a most prevalent gene driving syndromic autism with intellectual disability. Using droplet digital PCR and RNA sequencing we identified somatic mutations in ADNP and in other genes in the olfactory bulb and hipocampi of Alzheimer's disease (AD) patients. RNA-Seq of the olfactory bulb of 19 AD patients and 20 age-matched controls were generated by deep sequencing postmortem tissue, using Illumina Hi-seq 2500. Mutation frequencies of different genes was compared between the groups.