A de novo loss-of-function variant and two de novo missense variants in the TRIM8 gene have been identified in ASD probands (Takata et al., 2018; Zhou et al., 2022; Miyake et al., 2023). Heterozygous variants in the TRIM8 gene are responsible for focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS; OMIM 619428), a disorder characterized by global developmental delay, renal dysfunction manifesting as proteinuria and nephrotic syndrome apparent from infancy or early childhood, and variable neurodevelopmental features; autism spectrum disorder, autistic features, and/or stereotypy has been reported in a subset of affected individuals (Assoum et al., 2018; Weng et al., 2021).
Molecular Function
This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE).
