ACTG1

At least six mutations in the ACTG1 gene have been found to cause Baraitser-Winter syndrome, a rare condition that affects the development of the brain, eyes, and other facial features. The known mutations change single protein building blocks (amino acids) in γ-actin. The most common mutation replaces the amino acid serine with the amino acid phenylalanine at protein position 155 (written as Ser155Phe or S155F). The mutations that cause Baraitser-Winter syndrome alter the function of γ-actin, which causes changes in the actin cytoskeleton that modify the structure and organization of cells and affect their ability to move. Because γ-actin is present in cells throughout the body and is involved in many cell activities, problems with its function likely impact many aspects of development. These changes underlie the variety of signs and symptoms associated with Baraitser-Winter syndrome.

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