1例Rubinstein-Taybi综合征临床病例报告并文献复习  

A clinical case report of Rubinstein-Taybi syndrome and literature review

作　　者：张晓敏 秦志强[2] ZHANG Xiaomin;QIN Zhiqiang(Affiliated Hospital of Jining Medical University,Jining 272029,China)

机构地区：[1]济宁医学院附属医院儿科,山东济宁272029 [2]济宁医学院附属医院儿童康复科,山东济宁272029

出　　处：《中国中西医结合儿科学》2023年第1期84-87,共4页Chinese Pediatrics of Integrated Traditional and Western Medicine

摘　　要：目的探讨Rubinstein-Taybi综合征(RSTS)的遗传学特征。方法通过分析1例RSTS患儿的临床资料。结果女性患儿,2岁余,具有弓形眉、眼裂向外下斜、鹰钩鼻、双手拇指短扁宽、身高偏矮、智力发育落后等特点。全外显子基因测序显示CREBBP基因存在一杂合突变c.1824-1G>C(splicing),未发现其父母携带上述突变,为自发突变。结论发现了CREBBP基因c.1824-1G>C(splicing)新发突变,丰富了RSTS的基因突变谱。Objective To explore the genetic characteristics of Rubinstein-Taybi syndrome(RSTS).Methods The clinical data of a RSTS child was retrospectively analyzed.Results The patient was female,more than 2 years old.She had have the characteristics of arched eyebrows,outward and downward inclination of eye fissure,hooked nose,short,flat and wide thumbs of both hands,being short in height,and mental retardation.Whole exon gene sequencing showed that there was a heterozygous mutation c.1824-1G>C(splicing)in CREBBP gene.The above mutation was not found in her parents.It was a spontaneous mutation.Conclusion A de novo mutation of CREBBP gene c.1824-1G>C(splicing)has been found,which enrich the gene mutation spectrum of RSTS.

关 键 词：Rubinstein-Taybi综合征 CREBBP基因 新发突变 

分 类 号：R596[医药卫生—内科学]