1例Rubinstein-Taybi综合征临床病例报告并文献复习

中国中西医结合儿科学 ›› 2023, Vol. 15 ›› Issue (1): 84-87.

1例Rubinstein-Taybi综合征临床病例报告并文献复习

出版日期:2023-02-25 上线日期:2023-11-22

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

Published:2023-02-25 Online:2023-11-22

摘要/Abstract

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。

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

Abstract: ObjectiveTo explore the genetic characteristics of Rubinstein-Taybi syndrome（RSTS）.MethodsThe clinical data of a RSTS child was retrospectively analyzed.ResultsThe 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.ConclusionA de novo mutation of CREBBP gene c.1824-1G＞C（splicing） has been found，which enrich the gene mutation spectrum of RSTS.

Key words:

Rubinstein-Taybi syndrome, CREBBP gene, De novo mutation

张晓敏, 秦志强, . 1例Rubinstein-Taybi综合征临床病例报告并文献复习[J]. 中国中西医结合儿科学, 2023, 15(1): 84-87.

ZHANG Xiaomin, QIN Zhiqiang. . A clinical case report of Rubinstein-Taybi syndrome and literature review[J]. Chinese Pediatrics of Integrated Traditional and Western Medicine, 2023, 15(1): 84-87.