Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

ABSTRACT: Nonsyndromic orofacial clefts (NSOFCs) are the most common human craniofacial defects. Genetic factors play a critical role in the pathogenesis of NSOFCs. However, known causal genes only explain a minority of the estimated heritability. To unveil the underlying genetic architecture, exome sequencing is performed on 214 sporadic patients with NSOFCs. The findings substantiate the genetic and allelic heterogeneity of NSOFCs and underscore the crucial role of dysregulation of OFC-related signaling pathways in the occurrence of NSOFCs. Besides, the candidate variants discovered provide a fruitful resource for further genetic studies. Particularly, three BOC missense variants (p.R407W, p.G436S, and p.D1018N) are identified in three unrelated cases with cleft palate. In parallel, a BOC nonsense

SUBMITTER: He Q 

PROVIDER: S-EPMC12407381 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature