Princess Al-Jawhara Al-Ibrahim Center of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia.
Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.
Genet Test Mol Biomarkers. 2020 Nov;24(11):723-731. doi: 10.1089/gtmb.2019.0233. Epub 2020 Oct 29.
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, based on massively parallel next-generation sequencing technologies, play a vital role in deciphering the genetic bases of NSOFCs. In this study, whole exome sequencing was employed to detect genes that likely contributed to the NSOFC phenotype in a consanguineous Saudi family. The exome analysis revealed (rs35320960) as one potential candidate gene that is involved in bone differentiation. The gene (rs199996172), which plays a crucial role in ribosome biogenesis, also passed all filters to serve as a candidate gene for NSOFC in this family. Rare variants are situated within the 5' UTR of these two genes. The study suggests that rare variants in and may be associated with NSOFC disease etiology.
非综合征性口面裂(NSOFC)是全球最常见的颅面畸形。它们分为三种类型:(a)腭裂,(b)唇裂,和(c)唇裂和腭裂。为了鉴定多基因疾病(如 NSOFC)的潜在候选基因,可采用连锁分析、全基因组关联研究和基因组重排。基于大规模平行下一代测序技术的基因组分析,在解析 NSOFC 的遗传基础方面起着至关重要的作用。在这项研究中,对一个沙特裔的近亲家族进行了全外显子组测序,以检测可能导致 NSOFC 表型的基因。外显子组分析发现(rs35320960)是一个可能参与骨分化的候选基因。(rs199996172)基因在核糖体生物发生中起着至关重要的作用,也通过了所有的筛选,成为该家族 NSOFC 的候选基因。这两个基因的罕见变异位于 5'UTR 内。该研究表明,这两个基因中的罕见变异可能与 NSOFC 疾病的病因有关。
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