新生儿CHARGE综合征3例临床特征及CHD7基因突变位点分析并文献复习  

Analysis of Clinical Characteristics and CHD7 Gene Mutation Sites in3 Cases of Neonatal CHARGE Syndrome and Literature Review

作　　者：王劲 王丹[1] 曾凌空[1] 王石 WANG Jing;WANG Dan;ZNEG Lingkong;WANG Shi(Department of Neonatology,Wuhan Children′s Hospital(Wuhan Maternal and Child Health Care Hospital),Tongji Medical College,Huazhong University of Science&Technology,Wuhan 430016,Hubei,China)

机构地区：[1]华中科技大学同济医学院附属武汉儿童医院(武汉市妇幼保健院)新生儿内科,湖北武汉430016

出　　处：《江汉大学学报（自然科学版）》2023年第1期64-71,共8页Journal of Jianghan University：Natural Science Edition

摘　　要：目的 报道3例诊断为CHARGE综合征的患儿,对其临床特点及基因突变位点进行分析,并总结文献报道的中国新生儿CHARGE综合征患儿的基因突变特点及临床表现特点。方法 经临床诊断CHARGE综合征后,留取先证者及其父母的外周血标本并提取DNA,选择全外显子捕获芯片进行突变筛查,然后对疑似致病突变序列进行PCR扩增后对致病性突变位点进行Sanger测序验证。结果 根据CHARGE综合征的诊断标准,3例患儿均存在2项主要标准及2项次要标准符合,满足临床诊断CHARGE综合征诊断标准。基因分析结果 示3例患儿均存在CHD7基因突变,其中2例表现为CHD7基因杂合突变,1例表现为CHD7基因的杂合缺失,且其中2例突变位点均暂未见文献报道。结论 对于临床诊断CHARGE综合征的患儿,开展基因检测有利于分析该病的可能遗传致病机制。Objective Three neonates diagnosed with CHARGE syndrome were reported,and their clinical characteristics and gene mutation sites were analyzed. In addition,the characteristics of gene mutations and clinical manifestations in Chinese neonates with CHARGE syndrome reported in the literature were summarized. Methods After the clinical diagnosis of CHARGE syndrome,the peripheral blood samples of the proband and their parents were left,and DNA was extracted. The whole exon capture chip was selected for mutation screening. Then the suspected pathogenic mutation sequence was amplified by PCR,and Sanger sequencing was carried out to verify the pathogenic mutation site. Results According to the diagnostic criteria of CHARGE syndrome,two main and two secondary criteria in all 3 cases met the clinical diagnostic criteria of CHARGE syndrome. The gene analysis results showed that there were CHD7 gene mutations in all 3 cases,including 2cases of heterozygous mutation of the CHD7 gene and 1 case of heterozygosity loss of the CHD7 gene. Two of the mutant sites had not been reported. Conclusion For the clinical diagnosis of CHARGE syndrome in children, the development of gene detection is conducive to the analysis of the possible genetic pathogenesis of the disease.

关 键 词：CHARGE综合征 CHD7基因突变 临床特征 

分 类 号：R725.9[医药卫生—儿科]