Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes

Chun Yen Lin, Kai Wei Chang, Chia Yi Lin, Jia Ying Wu, Hilary Coon, Pei Hsin Huang, Hong Nerng Ho, Schahram Akbarian, Susan Shur Fen Gau, Hsien Sung Huang

Research output: Contribution to journalArticle

1 Citation (Scopus)


Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder, and the exact causal mechanism is unknown. Dysregulated allele-specific expression (ASE) has been identified in persons with ASD; however, a comprehensive analysis of ASE has not been conducted in a family quartet with ASD. To fill this gap, we analyzed ASE using genomic DNA from parent and offspring and RNA from offspring's postmortem prefrontal cortex (PFC); one of the two offspring had been diagnosed with ASD. DNA- and RNA-sequencing revealed distinct ASE patterns from the PFC of both offspring. However, only the PFC of the offspring with ASD exhibited a mono-to-biallelic switch for LRP2BP and ZNF407. We also identified a novel site of RNA-editing in KMT2C in addition to new monoallelically-expressed genes and miRNAs. Our results demonstrate the prevalence of ASE in human PFC and ASE abnormalities in the PFC of a person with ASD. Taken together, these findings may provide mechanistic insights into the pathogenesis of ASD.

Original languageEnglish
Article number4277
JournalScientific Reports
Issue number1
Publication statusPublished - Dec 1 2018
Externally publishedYes


ASJC Scopus subject areas

  • General

Cite this