Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). Studies have shown varying genetic mutations associated with both nsPRS and sPRS. The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Web of Science, PubMed, and Scopus were searched using the keywords: “Pierre Robin syndrome/sequence AND gene mutation.” The search resulted in 208 articles, of which 93 were excluded as they were duplicates/irrelevant. The full-text assessment led to the further exclusion of 76 articles. From the remaining 39 articles included in the review, details of 324 cases were extracted. 56% of the cases were sPRS, and 22% of the cases were associated with other malformations and the remaining were nsPRS. Genetic mutations were noted in 30.9% of the 300 cases. Based on the review, SOX9 was found to be the most common gene associated with both nsPRS and sPRS. The gene mutation in sPRS was specific to the associated syndrome. Due to the lack of original studies, a quantitative analysis was not possible. Thus, future studies must focus on conducting large-scale cohort studies. Along with generating data on genetic mutation, future studies must also conduct pedigree analysis to assess potential familial inheritance, which in turn could provide valuable insights into the etiopathogenesis of PRS.
Mol Syndromol

中文翻译：

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与皮埃尔罗宾综合征/序列相关的遗传突变：系统评价

皮埃尔罗宾综合征/序列 (PRS) 与三联征相关，包括小颌畸形、腭裂和可能导致呼吸道阻塞的舌下垂。该综合征有两种形式：非综合征型 PRS (nsPRS) 和与其他综合征相关的 PRS (sPRS)。研究表明，与 nsPRS 和 sPRS 相关的不同基因突变。本系统综述旨在提供一份全面的已发表文献，报告 PRS 中的基因突变。使用关键字搜索 Web of Science、PubMed 和 Scopus：“Pierre Robin 综合征/序列和基因突变”。搜索结果为 208 篇文章，其中 93 篇被排除，因为它们是重复的/不相关的。全文评估导致进一步排除了 76 篇文章。从评价中的其余 39 篇文章中，提取了 324 例的详细信息。56% 的病例为 sPRS，22% 的病例与其他畸形有关，其余为 nsPRS。在 300 例病例中，有 30.9% 的病例出现了基因突变。根据审查，发现SOX9是与 nsPRS 和 sPRS 相关的最常见基因。sPRS 中的基因突变是相关综合征特有的。由于缺乏原创研究，无法进行定量分析。因此，未来的研究必须专注于进行大规模的队列研究。除了生成基因突变数据外，未来的研究还必须进行谱系分析以评估潜在的家族遗传，这反过来可以为 PRS 的发病机制提供有价值的见解。
摩尔综合征