1例Rubinstein-Taybi综合征的临床分析及文献复习

Rubinstein-Taybi syndrome:a clinical analysis of one case and literature review

本文报道1例CREBBP基因变异导致Rubinstein-Taybi综合征的临床特征及CREBBP基因突变特点。患儿女,2岁,主要表现为精神运动发育迟缓,伴双手拇指及第一脚趾粗大。全外显子测序显示患儿CREBBP基因存在碱基缺失c.3469_3471del,p.val1157del(杂合),父母该位点为正常基因型,提示该变异可能为新生突变。临床上对于不明全因的全面性发育迟缓、神经系统疾病、肢体畸形,采用全外显子测序技术有助诊断,并可根据突变位点评估预后。

This article reports the clinical features of one case of Rubinstein-Taybi syndrome caused by new mutations of the CREBBP gene and the features of CREBBP gene mutation.The patient was a two-year-old girl who presented with psychomotor retardation,large thumbs and large first toes.The whole exon sequencing showed that the CREBBP gene of the child had base deletion c.3469_3471del,p.val1157del(heterozygous),but the parents had a normal genotype,which suggested that the mutation might be a newborn mutation.Clinically,for general developmental delays,neurological diseases,and limb malformations due to unknown all causes,the whole exome sequencing technology is helpful for diagnosis,and the prognosis can be assessed based on the mutation site.