A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability
Mirella Vinci,
Simone Treccarichi,
Rosanna Galati Rando
et al.
Abstract:E3 ubiquitin protein ligase encoded by ARIH2 gene catalyses the ubiquitination of target proteins and plays a crucial role in posttranslational modifications across various cellular processes. As prior documented, mutations in genes involved in the ubiquitination process are often associated with autism spectrum disorder (ASD) and/or intellectual disability (ID). In the current study, a de novo heterozygous mutation was identified in the splicing intronic region adjacent to the last exon of the ARIH2 gene usin… Show more
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