Two de novo variants in the PLPNA7 gene (one loss-of-function, one predicted damaging missense) were identified in ASD probands from the Simons Simplex Collection (ORoak et al., 2012; Iossifov et al., 2014). TADA-Annotations (TADA-A) analysis of whole-genome sequencing data from five studies with a total of 314 ASD-affected subjects in Liu et al., 2018 identified PNPLA7 as an ASD risk gene with a false discovery rate (FDR) < 0.1; among the de novo variants associated with this gene in ASD subjects as a loss-of-function variant, a predicted damaging (Mis3) missense variant, and a splicing SNV.
Molecular Function
Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli. Serine hydrolase, whose specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
