Abstract
Objectives: Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial malformations observed across the globe. They are classified into three types: (a) cleft palate, (b) cleft lip, and (c) cleft lip and palate. To identify the potential candidate genes contributing to polygenic diseases such as NSOFC, linkage analyses, genome-wide association studies, and genomic rearrangements can be used. Genomic analyses play a vital role in deciphering the genetic basis of the disease based on massively parallel, next-generation sequencing technologies.
Materials and Methods: This study identified new genes potentially related to NSOFCs within a consanguineous Saudi family. In this study, whole-exome sequencing was used to detect genes that contribute to the phenotype.
Results: The exome analysis revealed NRP1 (rs35320960) as one potential candidate gene that is involved in bone differentiation. The RPL27A gene (rs199996172), which plays a crucial role in ribosome biogenesis, also passed the overall levels of filtration as a candidate gene for NSOFC in this family. Rare variants are situated within the 5 ' UTR of these two genes.
Conclusion: The study suggests that rare variants in NRP1 and RPL27Amay be associated with NSOFC disease etiology.