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A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability.
Vinci, Mirella; Treccarichi, Simone; Galati Rando, Rosanna; Musumeci, Antonino; Todaro, Valeria; Federico, Concetta; Saccone, Salvatore; Elia, Maurizio; Calì, Francesco.
Afiliação
  • Vinci M; Oasi Research Institute-IRCCS, 94018, Troina, Italy.
  • Treccarichi S; Oasi Research Institute-IRCCS, 94018, Troina, Italy.
  • Galati Rando R; Oasi Research Institute-IRCCS, 94018, Troina, Italy.
  • Musumeci A; Oasi Research Institute-IRCCS, 94018, Troina, Italy.
  • Todaro V; Department of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia", University of Catania, Catania, Italy.
  • Federico C; Department of Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124, Catania, Italy.
  • Saccone S; Department of Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124, Catania, Italy. salvatore.saccone@unict.it.
  • Elia M; Oasi Research Institute-IRCCS, 94018, Troina, Italy.
  • Calì F; Oasi Research Institute-IRCCS, 94018, Troina, Italy.
Sci Rep ; 14(1): 15848, 2024 07 09.
Article em En | MEDLINE | ID: mdl-38982159
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 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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ubiquitina-Proteína Ligases / Transtorno do Espectro Autista / Deficiência Intelectual / Mutação Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ubiquitina-Proteína Ligases / Transtorno do Espectro Autista / Deficiência Intelectual / Mutação Idioma: En Ano de publicação: 2024 Tipo de documento: Article