Rubinstein-Taybi综合征3例临床及遗传学分析  

CLINICAL AND GENETIC FEATURES OF RUBINSTEIN-TAYBI SYNDROME:AN ANALYSIS OF THREE CASES

作　　者：杨宁[1] 顾晓冉 白丽君 YANG Ning;GU Xiaoran;BAI Lijun(Department of Pediatrics,Dezhou People’s Hosipital,Dezhou 253000,China)

机构地区：[1]德州市人民医院儿科,山东德州253000

出　　处：《青岛大学学报（医学版）》2023年第1期139-142,共4页Journal of Qingdao University(Medical Sciences)

基　　金：山东省医药卫生科技发展计划项目(2018WS442)。

摘　　要：目的探讨Rubinstein-Taybi综合征(RSTS)的临床表型及遗传学特点。方法回顾性分析2019年我院门诊确诊的3例RSTS病儿的临床资料。结果3例病儿均有特殊面容、拇指和大趾宽扁、体格及智力发育迟滞等特征。分子遗传学检测显示,3例致病基因均为CREBBP,其中1例携带CREBBP基因c.4890+2T>C杂合变异,为新突变;2例为16p13.3连续缺失,为已知致病突变。结论对于存在特殊面容、宽拇指/趾和生长发育迟缓的病儿应考虑RSTS的可能,CREBBP为该病的主要致病基因之一,基因靶向检测和基因组检测有助于RSTS临床确诊。Objective To investigate the clinical phenotype and genetic features of Rubinstein-Taybi syndrome(RSTS).Methods A retrospective analysis was performed for the clinical data of three children who were diagnosed with RSTS in the outpatient service of our hospital in 2019.Results All three children had the features of unusual facies,broad thumbs and big toes,and physical and mental retardation.The molecular genetic analysis showed that the CREBBP gene was the pathogenic gene in all three children,among whom one child carried the c.4890+2T>C heterozygous mutation of the CREBBP gene,which was a novel mutation,and two children had 16p13.3 continuous deletion,which was a known pathogenic mutation.Conclusion The possibility of RSTS should be considered for children with unusual facies,wide thumbs/toes,and growth retardation.CREBBP is one of the main pathogenic genes for this disease,and targeted gene detection and genome detection may help with the confirmed diagnosis of RSTS in clinical practice.

关 键 词：Rubinstein-Taybi综合征 疾病特征 基因检测 

分 类 号：R725.96[医药卫生—儿科]