德朗综合征1例报告及基因分析

Genetic analysis of Cornelia de Lange syndrome in one case

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.7176T>A(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.7176T>A突变在国内外未见报道。

Objective To explore the clinical features and gene mutation types of Cornelia de Lange syndrome （CdLS）, an inherited metabolic disease. Methods The clinical data and gene detection results of one case of CdLS were retrospectively analyzed. Results Two-year-old male had special appearance, microcephaly, bushy eyebrows with both sides meeting in the midline, long curly eyelashes, low body mass, and motor and mental retardation. NIPBL gene detection found the variation of the nucleotide in c.7176T〉A （nucleotide 7176 in coding region changed from T to A）. Conclusions CdLS is a rare congenital inherited metabolic disease. The clinical manifestations were special appearance and signs. The c.7176T〉A mutation in NIPBL gene has not been reported at home and abroad.