德朗综合征1例报告及基因分析

发布时间：2018-07-25 20:39

【摘要】：目的探讨遗传代谢病德朗综合征(Cd LS)的临床特点及基因突变类型。方法回顾1例Cd LS患儿的临床资料及基因检测结果。结果患儿,男,2岁。外貌特殊,头小,眉毛浓密、双侧汇合于中线,睫毛长而卷曲,体质量低,运动及智力发育落后。检测患儿NIPBL基因发现c.7176TA(编码区7176号核苷酸由T变为A)的杂核苷酸变异。结论 Cd LS为罕见先天遗传代谢病,临床表现有特殊的面容及体征。NIPBL基因的c.7176TA突变在国内外未见报道。
[Abstract]:Objective to investigate the clinical features and gene mutation types of (Cd LS) in patients with genetic metabolic disease Durant syndrome. Methods the clinical data and gene detection results of one child with CD LS were reviewed. Results the children were 2 years old. Special appearance, small head, thick eyebrows, bilateral confluence in the midline, long curly eyelashes, low body mass, poor motor and intellectual development. NIPBL gene was detected in children with heteronucleotide variation of c.7176TA (coding region 7176 nucleotides changed from T to A). Conclusion CDLS is a rare congenital metabolic disease with special features and signs. The c.7176TA mutation of NIPBL gene has not been reported at home and abroad.
【作者单位】：兰州大学第二医院;
【分类号】：R725.8

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