Relevance to Autism

A de novo nonsense variant, an paternally-inherited splice-site variant, and a paternally-inherited damaging missense variant in the PRPF39 gene were identified in ASD probands from the Autism Sequencing Consortium in De Rubeis et al., 2014. A maternally-inherited splice-site variant in this gene was later observed in an ASD proband from the Simons Simplex Collection in Krumm et al., 2015. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified PRPF39 as an ASD candidate gene with a PTADA of 0.003073.

Molecular Function

Involved in pre-mRNA splicing

External Links

References