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

Abstract: 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.

Key words:

Rubinstein-Taybi syndrome, CREBBP gene, De novo mutation