Molecular mechanisms of hotspot variants in cytoskeletal β-actin associated with Baraitser-Winter syndrome.

ABSTRACT: Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is the most common and best-defined clinical entity associated with heterozygous single-point missense mutations in cytoskeletal β-actin. Patients present with distinct craniofacial anomalies and neurodevelopmental disabilities of variable severity. To date, the most frequently observed variants affect residue R196 of cytoskeletal β-actin. Patients carrying the p.R196 variants are likely to suffer from pachygyria, probably due to neuronal migration defects contributing to the development of abnormal convolutions of the cerebral cortex. Here, we report on the recombinant production, purification and characterization of the BWCFF hotspot variants p.R196H, p.R196C and p.R196S. Our findings reveal that the stability of the monomeric variant

SUBMITTER: Greve JN 

PROVIDER: S-EPMC12443469 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature