1例Rubinstein-Taybi综合征的临床及CREBBP基因新突变分析  

Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene:an analysis of one case

作　　者：李媛[1] 何山[1] 朱鸿玲 

机构地区：[1]云南省第一人民医院儿科,云南昆明650032

出　　处：《中国当代儿科杂志》2017年第11期1155-1158,共4页Chinese Journal of Contemporary Pediatrics

摘　　要：患儿女,3岁8个月,出生身长、体重正常。生后喂养困难。身高、体重及头围均低于第3百分位,伴智力障碍,面容特别,表现为拱形粗眉、眼裂下斜、宽鼻梁,但无喙状鼻尖、宽大的拇指及脚趾,基本符合Rubinstein-Taybi综合征(RSTS)的临床表现。基因测序发现患儿CREBBP基因c.3779+1G>T杂合剪接位点突变,其父母该位点无变异,患儿明确诊断为RSTS。c.3779+1G>T在人类基因突变数据库中未见报道,为新的致病性突变。确诊后主要针对患儿语言及运动发育落后进行康复训练。目前患儿门诊随访3个月,尚未评估康复治疗疗效。The patient was a girl aged 3 years and 8 months with normal body length and body weight at birth.The girl had feeding difficulty after birth.Her height,body weight,and head circumference were below the 3 rd percentile.She had intellectual disability and an unusual facies manifesting as arched shaggy eyebrows,down-slanting palpebral fissures,and broad nasal bridge,but had no a beaked nose,broad thumbs,or big toes.These clinical manifestations were basically consistent with Rubinstein-Taybi syndrome（RSTS）.Gene sequencing identified a heterozygous splice site mutation,c.3779 T＋1 GT,in the CREBBP gene,which did not exist in her parents.Therefore,a definite diagnosis of RSTS was made.The mutation c.3779 T＋1 GT had not been reported in the Human Gene Mutation Database and was identified as a novel pathogenic mutation.Then the girl was given rehabilitation training for delayed language and motor development.The girl has been followed up for 3 months in the outpatient department,but the effect of rehabilitation treatment has not been evaluated.

关 键 词：Rubinstein-Taybi综合征 CREBBP基因 突变 生长迟缓 儿童 

分 类 号：R725.9[医药卫生—儿科]