Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics.

Abstract excerpt

Heterozygous dominant mutations in the ubiquitously produced cytoskeletal β-actin isoform lead to a broad range of human disease phenotypes, which are currently classified as three distinct clinical entities termed Baraitser-Winter-Cerebrofrontofacial syndrome (BWCFF), ACTB-associated pleiotropic malformation syndrome with intellectual disability (ACTB-PMSID), and ACTB-associated syndromic thrombocytopenia...

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• Actin Depolymerizing Factors
• Craniofacial Abnormalities
• Facies
• Frameshift Mutation
• Lissencephaly