March 3, 2026Open Access

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

Key Points

Findings suggest that de novo mutations in ARHGAP32 are significantly linked to idiopathic autism spectrum disorder.
Study observed shared neurobehavioral features associated with ARHGAP32 loss-of-function mutations, highlighting genetic factors.
Analysis included neurodevelopmental profiles, strengthening the link between RhoGAP family proteins and autism-related disorders.
Implications extend the understanding of genetic contributions to autism, warranting further exploration of these pathways.

Abstract

This study identifies shared neurobehavioral features of idiopathic Autism Spectrum Disorder (ASD) associated with de novo 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 ARHGAP32 as a candidate gene for ASD, expanding the genetic spectrum.

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Discussion

Authors

Lara Cirnigliaro

Lucia Saccuzzo

Viviana Marzà

Journals

SHILAP Revista de lepidopterología

Frontiers in Psychiatry

Actions

Institutions

Istituti di Ricovero e Cura a Carattere Scientifico

University of Catania

References and Citations

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

Key Points

Abstract

Citation Network

Connected Papers

Discussion

Authors

Journals

Actions

Institutions

References and Citations

Citation Network

Connected Papers

Discussion

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