Genome sequencing of 50 ASD probands and their unaffected parents from a Qatari cohort in Ben-Mahmoud et al., 2024 identified a de novo missense variant in the USP24 gene that was not in gnomAD or the Qatar Genome Project and was predicted to be damaging with a CADD score of 28.2 in a male ASD proband. Five de novo missense variants (four of which had CADD scores > 25) and three de novo coding-synonymous variants in the USP24 gene were previously identified in ASD probands (Iossifov et al., 2014; Satterstrom et al., 2020; Zhou et al., 2022; Fu et al., 2022; Yuan et al., 2023).
Molecular Function
Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes. A number of studies have suggested an association between the USP24 gene, which lies within the PARK10 locus, and Parkinson disease (Oliveira et al., 2005; Li et al, 2006, Haugarvoll et al., 2009; Wu et al., 2010).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort
Ubiquitin specific proteases USP24 and USP40 and ubiquitin thiolesterase UCHL1 polymorphisms have synergic effect on the risk of Parkinson's disease among Taiwanese
