Wulan Apridita Sebastian, Masanori Inoue, Nobuyuki Shimizu, Ryosuke Sato, Saori Oguri, Tomoyo Itonaga, Shintaro Kishimoto, Hiroshi Shiraishi, Toshikatsu Hanada, Kenji Ihara
The ACTA2 gene encodes actin α2, a major smooth muscle protein in vascular smooth muscle cells. Missense variants in the ACTA2 gene can cause inherited thoracic aortic diseases with characteristic symptoms, such as dysfunction of smooth muscle cells in the lungs, brain vessels, intestines, pupils, bladder, or heart. We identified a heterozygous missense variant of Gly148Arg (G148R) in a patient with a thoracic aortic aneurysm, dissection, and left ventricular non-compaction. We used zebrafish as an in vivo model to investigate whether or not the variants might cause functional or histopathological abnormalities in the heart...
February 5, 2024: Journal of Human Genetics