两例Cornelia de Lange综合征患儿的临床表现与基因突变分析  

Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome

作　　者：苗业权 朱越跃 张其刚 郭浩伟 赵玉祥[1] 程龙飞[3] 韩良荣[1] 宁颖[3] 潘琼[3] Miao Yequan , Zhu Yueyue , Zhang Qigang, Guo Haowei, Zhao Yuxiang, Cheng Longfei, Han Liangrong , Ning Ying , Pan Qiong(Department of Neonatology ; Department of Radiology ;Department of Clinical Genetics; Huaian Maternal and Child Health Care Hospital, Huaian, Jiangsu 223002, China; Nanjing Medical University, Nanjing, Jiangsu 210029, Chin)

机构地区：[1]扬州大学医学院附属淮安市妇幼保健院新生儿科,江苏223002 [2]扬州大学医学院附属淮安市妇幼保健院放射科,江苏223002 [3]扬州大学医学院附属淮安市妇幼保健院医学遗传科,江苏223002 [4]南京医科大学,210029

出　　处：《中华医学遗传学杂志》2018年第4期493-497,共5页Chinese Journal of Medical Genetics

基　　金：江苏省妇幼健康科研项目（F201670）;江苏省“333工程“科研项目（BRA2017250）

摘　　要：目的对两例疑诊为Cornelia de Lange综合征（CdLS）的新生儿进行基因突变检测。方法抽取患儿及其父母的静脉血样，提取DNA，采用目标区域序列捕获及高通量测序技术对CdLS的相关基因（NIPBL、SMCIA、SMC3、RAD21和HDAC8）进行测序，用Sanger测序法对可疑突变进行验证。结果在两例患儿的NIPBL基因中分别检测到c．7219C〉T（P．R2407X）杂合无义突变和C．7015_7024delGATcAGcAAC（P．D2339Lfs＊4）杂合移码突变，后者为尚未报道的致病性突变。未发现sMC1A、SMC3、RAD21和HDAC8基因的致病性突变。结论NIPBL基因的c．7219C〉T和c.7015_7024delGATCAGCAAC突变可能是两例患儿的发病原因。Objective To detect potential mutations in two neonates suspected for Cornelia de Lange syndrome （CdLS）. Methods Peripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing. Results The neonates were found to respectively carry mutations c. 7219C〉T and p. D2339Lfs ＊ 4 of the NIPBL gene, among which the p. D2339Lfs＊ 4 mutation has not been reported previously. No pathogenic mutation was Sound in other CdLS-related genes including NIPBL, SMC1A, SMC3, RAD21 and HDAC8. Conclusion The c. 7219C〉T and p. D2339Lfs ＊4 mutations of the NIPBL gene probably account for the disease in both patients.

关 键 词：Cornelia DE Lange综合征 NIPBL基因 突变 

分 类 号：R440[医药卫生—诊断学] R725.9[医药卫生—临床医学]