Varadarajan Saranya, Balaji Thodur Madapusi, Raj A Thirumal, Gupta Archana A, Patil Shankargouda, Alhazmi Tariq Hassan, Alaqi Halah Athman Ali, Al Omar Neda Essa M, Almutaher Somayh Abu Baker A, Jafer Alhassen Abdurabu, Hedad Ismaeel Abker
Department of Oral Pathology and Microbiology, Sri Venkateswara Dental College and Hospital, Chennai, India.
Department of Dentistry, Bharathirajaa Hospital, and Research Institute, Chennai, India.
Mol Syndromol. 2021 Apr;12(2):69-86. doi: 10.1159/000513217. Epub 2021 Mar 18.
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, 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.
皮埃尔·罗宾综合征/序列（PRS）与一组三联征症状相关，包括小颌畸形、腭裂和舌后坠，这些症状可能导致呼吸阻塞。该综合征有两种形式：非综合征性PRS（nsPRS）和与其他综合征相关的PRS（sPRS）。研究表明，nsPRS和sPRS都存在不同的基因突变。本系统综述旨在全面收集已发表的关于PRS基因突变的文献。使用关键词“皮埃尔·罗宾综合征/序列与基因突变”在Web of Science、PubMed和Scopus数据库中进行检索。检索结果为208篇文章，其中93篇因重复/不相关而被排除。全文评估又导致76篇文章被排除。从纳入综述的其余39篇文章中，提取了324例病例的详细信息。56%的病例为sPRS，22%的病例与其他畸形相关，其余为nsPRS。在300例病例中，30.9%发现有基因突变。基于该综述，发现 是与nsPRS和sPRS都相关的最常见基因。sPRS中的基因突变特定于相关综合征。由于缺乏原始研究，无法进行定量分析。因此，未来的研究必须专注于开展大规模队列研究。除了生成基因突变数据外，未来的研究还必须进行系谱分析以评估潜在的家族遗传情况，这反过来可为PRS的病因发病机制提供有价值的见解。 （注：原文中“Based on the review, was found to be the most common gene associated with both nsPRS and sPRS.”这里有缺失信息，用 表示）
