1例Cockayne综合征临床特点及基因突变分析  

Analysis of one case of Cockayne syndrome clinical characteristics and gene mutation

作　　者：刘文晶 尤玉慧[1] 韩启军[1] 袁兆红[1] LIU Wenjing;YOU Yuhui;HAN Qijun;YUAN Zhaohong(Department of Child Rehabilitation,Affiliated Hospital of Jining Medical University,Jining,Shandong 272029,China)

机构地区：[1]济宁医学院附属医院儿童康复科,山东济宁272029

出　　处：《中国优生与遗传杂志》2021年第9期1299-1302,共4页Chinese Journal of Birth Health & Heredity

基　　金：济宁市科技助推新旧动能转换计划(2017SMNS007)。

摘　　要：目的对1例Cockayne综合征(CS)的临床、影像学特征及对遗传学结果进行分析。方法收集1例CS患儿的临床和影像学资料,应用全外显子组测序技术及拷贝数变异检测对患儿及其父母进行遗传学分析,寻找致病性变异。结果该患儿典型临床特征主要为生长发育障碍、进行性神经功能异常、特殊面容、色素性视网膜病等,其特征性影像学改变为双侧基底节区对称钙化灶,拷贝数变异检测发现受检者本人ERCC8基因NM_00082转录本的4号外显子存在纯合缺失变异,双亲杂合缺失变异,杂合缺失变异。结论该患儿具有典型的临床及影像学特征,同时存在ERCC8基因的拷贝数变异,支持诊断CS,补充了ERCC8基因新的突变形式。Objective To investigate the clinical and imaging characteristics of one case of Cockayne syndrome(CS)and the genetic results. Methods The clinical and imaging data of a child with CS were collected, and the whole exome sequencing technology was used to perform genetic analysis of the child and its parents to find pathogenic variants. Results The typical clinical features of the child were growth and development disorders, progressive neurological dysfunction, special facial features, and retinopathy pigmentosa. The characteristic imaging changes were bilateral symmetrical calcifications in the basal ganglia. The copy number variation test found that the subject had a homozygous deletion in exon 4 of the ERCC8 gene NM_000082 transcript, the parents heterozygous deletion mutation. Conclusion The patient has typical clinical and imaging features, and there is also a copy number variation of the ERCC8 gene, which supports the diagnosis of CS and supplements the new mutation form of the ERCC8 gene.

关 键 词：Cockayne综合征 临床特征 基因缺失变异 

分 类 号：R725.9[医药卫生—儿科]