Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome

    Emily Cai, Bryan K. Sun, Audris Chiang, Anna Rogers, Laura Bernet, Binbin Cheng, Joyce Teng, Kerri E. Rieger, Kavita Y. Sarin
    TLDR Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
    The study identified recurrent postzygotic mutations in the ACTB gene, specifically p.R147C and p.R147S, in 61% of Becker’s nevi cases, including one case of Becker’s nevus syndrome. These mutations were found exclusively in the pilar muscle lineage and were associated with increased Hedgehog (Hh) pathway signaling, which may disrupt hair follicle and muscle development. The findings suggested that these ACTB mutations underlie the development of Becker’s nevi and potentially contribute to the musculoskeletal abnormalities seen in Becker’s nevus syndrome.
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