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

Abstract excerpt

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...

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