A de novo nonsense variant in the LEO1 gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014; additional de novo variants in this gene were observed in individuals from the Deciphering Developmental Disorders study in 2017. Paternally-inherited deletions of the LEO1 promoter were detected in three affected individuals (one trio and one concordant sib pair) in Brandler et al., 2018; fibroblast cell lines derived from the concordant sib pair displayed increased LEO1 expression compared to control lines (p = 0.018).
Molecular Function
Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
