Aliases: MRX105, USP22L, USP27, XLID105
Chromosome No: X
Chromosome Band: Xp11.23
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 6
Recent Reports: 0
Annotated variants: 15
Associated CNVs: 9
Evidence score: 3
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Relevance to Autism
Koch et al., 2024 reported 10 affected males from 9 unrelated families carrying variants in the USP27X gene and presenting with an X-linked neurodevelopmental disorder characterized by intellectual disability and/or speech delay, motor delay, autism spectrum disorder, and ADHD; functional characterization of disease-associated missense variants in this gene demonstrated effects on developmentally-relevant protein-protein interactions and/or deubiquitylating activity. Maternally-inherited variants in this gene had previously been identified in affected males from two unrelated families presenting with borderline to moderate intellectual disability, variable absent or poor speech and behavioral problems (Hu et al., 2016). Rare variants in the USP27X gene, including a de novo loss-of-function variant, have also been identified in ASD probands (Satterstrom et al., 2020; Hu et al., 2022; Zhou et al., 2022; Wang et al., 2023).
Molecular Function
This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in cancer cells. Mutations in this gene have been associated with X-linked cognitive disability.
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