ACTB

Several mutations in the ACTB 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 β-actin. The most common mutation replaces the amino acid arginine with the amino acid histidine at protein position 196 (written as Arg196His or R196H). The mutations that cause Baraitser-Winter syndrome alter the function of β-actin, which causes changes in the actin cytoskeleton that modify the structure and organization of cells and affect their ability to move. Because β-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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