Uni- or bilateral renal agenesis (RA) is a commonly occurring major congenital anomaly impacting fetal and neonatal outcomes. Since the etiology is highly heterogeneous, our aim was to provide a logically structured approach by highlighting the genes in which variants have been identified to be associated with RA and to define the pathways involved in this type of abnormal kidney development. We used Phenolyzer to collect a list of all the genes known as causative for RA. Using ClueGO gene enrichment analysis, we classified the relationship between these genes and the biological processes defined by gene ontology. We identified 287 genes and 69 groups of enriched biological processes. About 50% included pathways directly related to the development of urogenital organ tissues. Several ciliary, axis specification, hindgut development, and endocrine pathways were enriched, which may relate to different clinical presentations of RA. Our gene ontology enrichment analysis shows that genes representing distinct biological pathways are significantly enriched. This knowledge will lead to an improved molecular diagnosis in clinical care when applying genome-wide sequencing approaches. The findings will also allow to further study the biological pathways involved in RA and to identify novel candidate genes and pathways.
Mol Syndromol

中文翻译：

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肾发育不全的基因本体富集分析：改善产前分子诊断

单侧或双侧肾发育不全 (RA) 是一种常见的主要先天性异常，影响胎儿和新生儿的结局。由于病因高度异质性，我们的目标是通过突出显示已鉴定出与 RA 相关的变异的基因，并确定参与此类异常肾脏发育的途径，从而提供一种逻辑结构化的方法。我们使用 Phenolyzer 收集了所有已知为 RA 致病基因的列表。使用 ClueGO 基因富集分析，我们对这些基因与基因本体定义的生物过程之间的关系进行了分类。我们确定了 287 个基因和 69 组丰富的生物过程。大约 50% 包括与泌尿生殖器官组织发育直接相关的途径。几个睫状体，轴规格，后肠发育，和内分泌通路丰富，这可能与 RA 的不同临床表现有关。我们的基因本体富集分析表明，代表不同生物途径的基因被显着富集。当应用全基因组测序方法时，这些知识将导致临床护理中分子诊断的改进。这些发现还将允许进一​​步研究 RA 中涉及的生物学途径，并确定新的候选基因和途径。
摩尔综合征