摘要
目的 探讨5例Rett综合征(RTT)样表型患儿的临床特征及对遗传学结果进行分析。方法 收集5例RTT样表型患儿的临床资料,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 结合患儿的临床特征及基因突变分析结果,4例患儿诊断为RTT,1例患儿诊断为MECP2重复综合征(MDS)。结论 具有RTT样表型的遗传性疾病中,可能存在多种基因突变形式,应将基因诊断作为重要的辅助诊断标准。
Objective To investigate the clinical characteristics and genetic results of 5 children with Rett syndrome(RTT)-like phenotype.Methods The clinical data of 5 children with RTT-like phenotype were collected,and the genetic analysis of the children and their parents was carried out by using the whole exon sequencing technology and copy number variation detection to find the pathogenic variation.Results According to the clinical features and gene mutation analysis results,4 cases were diagnosed as RTT and 1 case was diagnosed as MECP2 duplication syndrome(MDS).Conclusion There may be multiple forms of gene mutation in hereditary diseases with RTT-like phenotype,and gene diagnosis should be taken as an important auxiliary diagnostic standard.
作者
刘文晶
姜秀芳
尤玉慧
秦志强
韩启军
袁兆红
LIU Wenjing;JIANG Xiufang;YOU Yuhui;QIN Zhiqiang;HAN Qijun;YUAN Zhaohong(Department of Child Rehabilitation,Affiliated Hospital of Jining Medical University,Jining,Shandong 272029,China)
出处
《中国优生与遗传杂志》
2023年第4期784-787,共4页
Chinese Journal of Birth Health & Heredity
