De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder

This study identifies shared neurobehavioral features of idiopathic Autism Spectrum Disorder (ASD) associated with <i>de novo</i> LoF mutations in ARHGAP32 and reinforces the involvement of RhoGAP family proteins in neurodevelopmental disorders. Taken together with previous evidence, our data support the role of <i>ARHGAP32</i> as a candidate gene for ASD, expanding the genetic spectrum.

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Publication Details

Journal
Frontiers in Psychiatry
Published
2026-02-06
DOI
https://doi.org/10.3389/fpsyt.2026.1754241
Primary Topic
Autism Spectrum Disorder Research
Type
article
Field-Weighted Citation Impact
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article

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder

Lara Cirnigliaro, C Romano, Martina Randazzo, Lucia Saccuzzo et al.
Frontiers in Psychiatry
Autism Spectrum Disorder Research
article

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder

Lara Cirnigliaro, C Romano, Martina Randazzo, Lucia Saccuzzo, Viviana Marzà, Renata Rizzo, Maria Perdichizzi, Marco Fichera, Rita Barone
article en

Abstract

This study identifies shared neurobehavioral features of idiopathic Autism Spectrum Disorder (ASD) associated with <i>de novo</i> LoF mutations in ARHGAP32 and reinforces the involvement of RhoGAP family proteins in neurodevelopmental disorders. Taken together with previous evidence, our data support the role of <i>ARHGAP32</i> as a candidate gene for ASD, expanding the genetic spectrum.

Frontiers in PsychiatryVol. 17
University of Catania (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT)
Openalex Percentile: Top 65%
Autism Spectrum Disorder Research
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