Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial Syndrome with a variant in ACTB
Takayuki Tsujimoto, Yushi Ou, Makoto Suzuki, Yuka Murata, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Yasushi Sakata, Hajime Ogino, Takashi Yamashiro, Hiroshi Kurosaka
This study identifies a variant in the ACTB gene associated with orofacial clefts in BWCFF and shows it impairs actin dynamics and epithelial cell function.
Human Molecular Genetics · Sep 13, 2024Peer-reviewedGenetics