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A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability
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A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability
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Journal Article
A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability
2024
Overview
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 using whole exome sequencing (WES). We hypothesize that this mutation, found in an ASD/ID patient, disrupts the protein Ariadne domain which is involved in the autoinhibition of ARIH2 enzyme. Predictive analyses elucidated the implications of the novel mutation in the splicing process and confirmed its autosomal dominant inheritance model. Nevertheless, we cannot exclude the possibility that other genetic factors, undetectable by WES, such as mutations in non-coding regions and polygenic risk in inter-allelic complementation, may contribute to the patient's phenotype. This work aims to suggest potential relationship between the detected mutation in
ARIH2
gene and both ASD and ID, even though functional studies combined with new sequencing approaches will be necessary to validate this hypothesis.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ Autism
/ Autism Spectrum Disorder - genetics
/ Autosomal dominant inheritance
/ Autosomal dominant inheritance model
/ Child
/ Female
/ Genetic Predisposition to Disease
/ Humanities and Social Sciences
/ Humans
/ Intellectual Disability - genetics
/ Male
/ Mutation
/ Science
