Usmani-Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the <i>AP1G1</i> Gene and Phenotypic Insights Using Zebrafish as a Vertebrate Model.

ABSTRACT: Adaptor Protein-1 (AP-1) is a heterotetrameric essential for intracellular vesicular trafficking and polarized localization of somato-dendritic proteins in neurons. Variants in the AP1G1 gene, encoding the gamma-1 subunit of adaptor-related protein complex 1 (AP1γ1), have recently been associated with Usmani-Riazuddin syndrome (USRISD, MIM#619467), a very rare human genetic disorder characterized by intellectual disability (ID), speech and neurodevelopmental delays. Here we report a novel variant (c.196G>A; p.Gly66Arg) identified by exome sequencing analysis in a young girl showing overlapping clinical features with USRIS, such as motor and speech delay, intellectual disability and abnormal aggressive behavior. In silico analysis of the missense de novo variant suggested an alterati

SUBMITTER: Imperatore V 

PROVIDER: S-EPMC12610428 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature