1例Rubinstein-Taybi综合征的临床及CREBBP基因新突变分析
发布时间：2018-10-24 11:11
【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+1GT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+1GT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。
[Abstract]:The girl, 3 years old and 8 months old, was born long and normal weight. It is difficult to feed after birth. Height, weight and head circumference were all lower than the 3rd percentile, accompanied by mental retardation and special facial features, with arched thick eyebrow, lower slant eye fissure, wide nose beam, but beakless nose tip, broad thumb and toe, which basically accorded with the clinical manifestation of Rubinstein-Taybi syndrome (RSTS). CREBBP gene c. 3779 1GT heterozygous splicing site mutation was found in the children by gene sequencing, but no mutation was found in their parents. The diagnosis of RSTS.c.3779 1GT was not reported in the human gene mutation database, and it was a new pathogenicity mutation. After diagnosis, rehabilitation training was mainly carried out for children with language and motor retardation. At present, the outpatient follow-up 3 months, no evaluation of rehabilitation treatment effect.
【作者单位】： 云南省第一人民医院儿科;
【分类号】：R725.9
[Abstract]:The girl, 3 years old and 8 months old, was born long and normal weight. It is difficult to feed after birth. Height, weight and head circumference were all lower than the 3rd percentile, accompanied by mental retardation and special facial features, with arched thick eyebrow, lower slant eye fissure, wide nose beam, but beakless nose tip, broad thumb and toe, which basically accorded with the clinical manifestation of Rubinstein-Taybi syndrome (RSTS). CREBBP gene c. 3779 1GT heterozygous splicing site mutation was found in the children by gene sequencing, but no mutation was found in their parents. The diagnosis of RSTS.c.3779 1GT was not reported in the human gene mutation database, and it was a new pathogenicity mutation. After diagnosis, rehabilitation training was mainly carried out for children with language and motor retardation. At present, the outpatient follow-up 3 months, no evaluation of rehabilitation treatment effect.
【作者单位】： 云南省第一人民医院儿科;
【分类号】：R725.9
【相似文献】
相关期刊论文 前10条
1 孙玲玲;陈运生;余珍珠;黄宝兴;徐刚;马东礼;李长钢;刘磊;刘晓红;;新生儿高未结合胆红素血症遗传因素的研究[J];中国当代儿科杂志;2012年04期
2 韩振靓,李堂;SHOX基因在矮身材中的研究进展[J];国外医学.内分泌学分册;2005年04期
3 李端;刘丽;;多种羧化酶缺陷症基因突变研究进展[J];医学综述;2007年07期
4 韩蓓,李堂;儿童肝豆状核变性基因突变初步研究[J];山东医药;2000年10期
5 蹇在伏;唐发清;陈方平;解勤之;王光平;;一种新的GPⅡb基因540A缺失移码突变引起的血小板无力症[J];中南大学学报(医学版);2008年02期
6 关s，
本文编号：2291224
本文链接：https://www.wllwen.com/yixuelunwen/eklw/2291224.html
最近更新
教材专著
