Unraveling the Involvement of Aberrant Dynamics of Actin Molecules in Cleft Lip and Palate Caused by Rare Disease, Baraitser-Winter cerebrofrontofacial syndrome.

Hiroshi KUROSAKA, Takashi YAMASHIRO
Department of Orthodontics and Dentofacial Orthopedics

The research group has uncovered that abnormal dynamics of actin molecules in epithelial cells could potentially cause cleft lip and palate in individuals with Baraitser-Winter cerebrofrontofacial syndrome,(BWCFF syndrome) a rare disease. While it was previously known that pathological variants of actin molecules were implicated in the pathogenesis of BWCFF syndrome, many details regarding the specific mechanism remained unknown. The findings of this study will contribute to further understanding of the disease and the development of diagnostic and treatment methods for both BWCFF syndrome and related disorders. Additionally, the diagnosis and elucidation of causes for rare undiagnosed diseases require interdisciplinary research such as this study. The results have the potential to serve as a role model for future research on rare diseases.


The article, ““Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB,” was published in Human Molecular Geneics at DOI: https://doi.org/10.1093/hmg/ddae133