A de novo splice-site variant in the PLXNA3 gene was identified in an ASD proband from the Simons Simplex Collection in Krumm et al., 2015. targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified three rare deleterious variants in PLXNA3 in Chinese ASD probands; subsequent Transmission and De Novo Association (TADA) analysis of a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, identified PLXNA3 as an ASD candidate gene with a PTADA of 0.006567. Steele et al., 2021 reported 14 males with maternally-inherited hemizygous PLXNA3 variants; all 14 individuals presented with intellectual disability, and 13 of these individuals also presented with autism spectrum disorder.
Molecular Function
This gene encodes a member of the plexin class of proteins. The encoded protein is a class 3 semaphorin receptor, and may be involved in cytoskeletal remodeling and as well as apoptosis. Studies of a similar gene in zebrafish suggest that it is important for axon pathfinding in the developing nervous system.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare, inherited truncating mutations in autism.
