Potocki-Shaffer综合征的临床诊断及文献复习  

Clinical diagnosis of Potocki-Shaffer syndrome and literature review

作　　者：石聪聪[1] 简汉锵 廖秀玲 林秀雯 莫文辉 周杰 肖昕[1,3] 郝虎[1,3] 李思涛[1,3] Shi Congcong;Jian Hanqiang;Liao Xiuling;Lin Xiuwen;Mo Wenhui;Zhou Jie;Xiao Xin;Hao Hu;Li Sitao(Inborn Errors of Metabolism Laboratory,the Sixth Affiliated Hospital,Sun Yat-Sen University,Guangzhou 510655,China;Department of Pediatrics,Fuxing Chancheng Hospital,Foshan 528000,China;Department of Pediatrics,the Sixth Affiliated Hospital,Sun Yat-Sen University,Guangzhou 510655,China)

机构地区：[1]中山大学附属第六医院儿科遗传代谢病实验室,广州510655 [2]佛山复星禅诚医院儿科,佛山528000 [3]中山大学附属第六医院儿科,广州510655

出　　处：《中华实用儿科临床杂志》2022年第23期1818-1821,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：广东省科技计划项目(2020A1414010111)。

摘　　要：目的探讨Potocki-Shaffer综合征(PSS)的临床诊断特点和遗传学特征。方法对2021年2月中山大学附属第六医院儿科确诊的1例PSS患儿的临床表现、生化检查及基因检测等临床资料进行回顾性分析,并以"Potocki-Shaffer syndrome"、"ALX4 gene""EXT2 gene""PHF21A gene"为关键词,检索万方数据、中国知网、PubMed数据库自建库至2021年12月收录的文献,并对在线人类孟德尔遗传数据库收录的基因进行检索,总结PSS患者的临床特点和遗传学特征。结果本例患儿,男,5个月21 d,因"发现体重增长过快3月余"入院。患儿表现为智力障碍、运动发育迟缓、过度生长、隐匿性阴茎、听力障碍及肌张力低等。全外显子碱基序列测序发现患儿Chr11:44069455-48188946区域存在杂合缺失变异,其包含常染色体显性遗传基因EXT2、ALX4和PHF21A杂合缺失,临床诊断为PSS。文献检索共收集14篇文献(均为英文),包括本例患儿共36例,其中14例为碱基变异,22例为大片段缺失。涉及PHF21A基因23例(智力障碍22例,运动发育障碍21例,语言发育迟缓18例),涉及EXT2基因22例(外生骨疣13例),涉及ALX4基因19例(双顶骨孔15例);36例中颅面异常27例。结论PSS临床表型与3个常染色体显性遗传基因ALX4、EXT2和PHF21A密切相关,主要表现为智力障碍、颅面异常、语言运动发育障碍、外生骨疣及双顶骨孔等;基因检测有助于PSS的临床确诊,其变异类型以单碱基变异和大片段缺失为主。Objective To summarize the clinical and genetic characteristics of Potocki-Shaffer syndrome(PSS).Methods A retrospective study was conducted to analyze the clinical data of 1 patient diagnosed with PSS in the Department of Pediatrics of the Sixth Affiliated Hospital,Sun Yat-Sen University at February 2021.The data analyzed included clinical manifestations,biochemical tests and gene tests.Meanwhile,studies were retrieved from the China National Knowledge Internet database,Wanfang database,and PubMed database from the establishment of the database to December 2021 by taking"Potocki-Shaffer syndrome""EXT2 gene""AlX4 gene"and"PHF21A gene"as key words.Besides,genes were searched from the Online Frontal Analysis Mendelian Inheritance in Man.The clinical and genetic features of PSS patients were summarized.Results The patient was 5 months and 21 days old,male,who was admitted to the hospital due to excessive growth in body mass for the past 3 months.The patient showed mental and motor retardation,overgrowth,concealed penis,hearing loss,and hypotonia.Whole exon sequencing of this patient revealed heterozygous deletions in the Chr11:44069455-48188946 region,including the deletions of 3 autosomal dominant genes:EXT2,ALX4,and PHF21A.The patient was diagnosed with PSS.A total of 14 articles published in English were collected,involving this boy and other 35 patients.In these patients,14 cases had point mutations,and 22 cases had large deletions.PHF21A gene variation was detected in 23 cases(dysgnosia in 22 cases,dyskinesia in 21 cases,language development delay in 18 cases).EXT2 gene variation was observed in 22 cases(exostoses in 13 cases).ALX4 gene variation was found in 19 cases(bilateral parietal foramina in 15 cases).Of 36 cases,27 cases had craniofacial anomalies.Conclusions The main clinical symptoms of PSS are language and motor developmental delay,intellectual disability,exostoses,bilateral parietal foramina,and craniofacial anomalies,which are closely related to 3 autosomal dominant genes ALX4,EXT2 and PHF21A.Genet

关 键 词：Potocki-Shaffer综合征 EXT2基因 ALX4基因 PHF21A基因 外生骨疣 智力障碍 

分 类 号：R725.9[医药卫生—儿科]