A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes.

ABSTRACT: Recent studies have identified many genes with rare de novo mutations in autism, but a limited number of these have been conclusively established as disease-susceptibility genes due to the lack of recurrence and confounding background mutations. Such extreme genetic heterogeneity severely limits recurrence-based statistical power even in studies with a large sample size. Here, we use cell-type specific expression profiles to differentiate mutations in autism patients from those in unaffected siblings. We report a gene expression signature in different neuronal cell types shared by genes with likely gene-disrupting (LGD) mutations in autism cases. This signature reflects haploinsufficiency of risk genes enriched in transcriptional and post-transcriptional regulators, with the strongest posi

SUBMITTER: Zhang C 

PROVIDER: S-EPMC5865588 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature