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作 者:吴燕明 王丽[3] 李群[1] 李辛 胥雨菲 沈永年 王剑[1] 王秀敏[1] WU Yanming;WANG Li;LI Qun;LI Xin;XU Yufei;SHEN Yongnian;WANG Jian;WANG Xiumin(Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China;People’s Hospital of Shanghai Pudong New District,Shanghai 201299,China;Affiliated Hospital of Jining Medical College,Jining 272001,Shandong,China)
机构地区:[1]上海交通大学医学院附属上海儿童医学中心,上海200127 [2]上海市浦东新区人民医院,上海201299 [3]济宁医学院附属医院,山东济宁272001
出 处:《临床儿科杂志》2020年第5期324-327,共4页Journal of Clinical Pediatrics
基 金:国家自然科学基金(No.81360139);上海市浦东新区科技发展基金(No.PKJ2018-Y46)。
摘 要:目的探讨NOTCH2基因变异致Hajdu-Cheney综合征(HCS)的临床表现和致病基因特点。方法回顾分析1例HCS患儿的临床及随访资料,并复习相关文献。结果患儿,男,11岁8月龄。手指末端发育异常,特殊面容,身材偏矮,摔跤后胸椎压缩性骨折;影像学发现肢端骨溶解、颅底凹陷。高通量测序结果显示,患儿NOTCH2基因存在c.6449_6450 delCT,p.Pro 2150Argfs*2杂合变异,其父母该位点的基因型均无异常,为新生突变。结论基因检测有助于明确诊断HCS。Objective To explore the clinical manifestations and pathogenic gene characteristics of Hajdu-Cheney syndrome(HCS)caused by NOTCH2 gene mutation.Method The clinical and follow-up data of a boy with HCS were retrospectively analyzed,and the relevant literatures were reviewed.Results A child,male,11 years and 8 months old,had abnormal finger terminal development,special face,short stature and compression fracture of the thoracic vertebra after fall.Imaging revealed acroosteolysis and basilar invagination.High-throughput sequencing identified a de novo heterozygous mutation of c.6449_6450delCT(p.Pro2150Argfs*2)in the NOTCH2 gene of the child,which has not been reported.Conclusion Gene detection is helpful for the diagnosis of HCS.
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