Article

Baraitser–Winter Syndrome Hotspot Mutation R196H in Cytoskeletal β–actin Reduces F–actin Stability and Perturbs Interaction with the Arp2/3 Complex

2024-03-20

Abstract excerpt

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, with the variant p.R1...

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Literature Corpus work: 405ddb05-a4f6-51bb-889d-422ab4a4420c
DOI: 10.1101/2024.03.20.585892

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