Rubinstein-Taybi综合征1例并文献复习

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摘要目的总结Rubinstein-Taybi综合征(RSTS)患儿表现型及基因型。方法回顾性分析1例2020年8月四川省妇幼保健院儿科门诊经家系Trio全外显子组测序检测诊断的RSTS患儿临床资料及基因突变结果。以“Rubinstein-Taybi and China”“Rubinstein-Taybi综合征”为索引词,分别应用PubMed、CNKI、万方等数据库选取中国RSTS患儿CREBBP基因突变阳性且临床资料完整的文献,并进行文献复习。结果患儿,女,2岁5月,自幼全面发育落后,小头畸形,颅面畸形,宽拇指/趾、并指及小下颌等特征性表现。全外显子基因测序提示CREBBP基因存在新生杂合突变c.4648G>A突变,该突变在人类基因数据库中未见报道,Sanger测序未发现其父母、哥哥携带上述突变。通过对既往文献复习,总结了中国52例RSTS患者以颅面畸形、智力发育迟缓、苦笑面容、宽拇指/趾为主要表现,患者胎儿期诊断困难,基因突变方式以截断突变为主。结论报道1例新发CREBBP基因突变致病的RSTS,扩展了RSTS突变相关患者的基因型谱。文献复习发现国内无产前诊断病例,基因检测有助于该病诊断。

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关键词 ： Rubinstein-Taybi 综合征, CREBBP, 基因突变

收稿日期: 2022-08-23

ZTFLH:

R72

基金资助:成都市科技局科技项目(2021-YF05-01658-SN);四川省妇幼保健院科技创新基金项目(CXPJ017-2020)

通讯作者: 熊复(xiongfu606@163.com)

引用本文:

蒯钰, 郝静梅, 汤蓓, 朱书瑶, 唐笠, 曾兰, 熊复. Rubinstein-Taybi综合征1例并文献复习[J]. 中国生育健康杂志, 2023, 34(6): 581-585.

链接本文:

http://cjrh.bjmu.edu.cn/CN/ 或 http://cjrh.bjmu.edu.cn/CN/Y2023/V34/I6/581

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