·125·临床儿科杂志2023年第41卷第2期JClinPediatrVol.41No.2Feb.2023儿童肥厚型心肌病中Noonan综合征基因型与临床表型朱晓丽1杨倩利1王博1拓胜军1赵雪丽1李静1成胜全2刘丽文1空军军医大学第一附属医院1.超声医学科，2.儿科（陕西西安710032）摘要：目的总结儿童肥厚型心肌病（HCM）中Noonan综合征的基因变异与临床特征。方法对123例儿童肥厚型心肌病先证者进行96个遗传性心肌病相关基因的二代测序及生物信息学分析，确定变异位点；筛选出11例Noonan综合征患儿，收集其临床资料及超声心动图结果。结果11例患儿均因心肌肥厚就诊，男5例、女6例，肥厚型心肌病诊断中位年龄2岁7个月（5个月～10岁），Noonan综合征诊断中位年龄6岁9个月（7个月～16岁）。11例患儿中10例为3号染色体RAF1基因型，1例为12号染色体PTPN11基因型；7例为新发变异，其中1例RAF1基因患儿检测出同时携带与肥厚型心肌病相关的变异基因MYBPC3。11例患儿中9例具有典型Noonan综合征面部特征。11例患儿均为肥厚型心肌病，9例为梗阻性肥厚型心肌病，合并右室流出道梗阻2例，合并先天性心脏病7例。结论以肥厚型心肌病为表型的儿童Noonan综合征多为RFA1基因型，易发生左心室流出道梗阻且多合并先天性心脏病。关键词：Noonan综合征；PTPN11基因；RAF1基因；肥厚型心肌病；先天性心脏病GenotypesandclinicalphenotypesofNoonansyndromeinchildrenwithhypertrophiccardiomyopathyZHUXiaoli1,YANGQianli1,WANGBo1,TAShengjun1,ZHAOXueli1,LIJing1,CHENGShengquan2,LIULiwen2(1.DepartmentofUltrasound,TheFirstAffiliatedHospitalofAirForceMedicalUniversity,Xi΄an710032,Shaanxi,China;2.DepartmentofPediatrics,TheFirstAffiliatedHospitalofAirForceMedicalUniversity,Xi'an710032,Shaanxi,China)Abstract:ObjectiveToretrospectivelysummarizethegeneticvariantsandclinicalcharacteristicsofNoonansyndromeinchildrenwithhypertrophiccardiomyopathy(HCM).MethodsAtotalof123childrenwithHCMwereenrolledinthisstudy.Secondgenerationsequencingandbioinformaticanalysisof96genesassociatedwithhypertrophiccardiomyopathywereperformedin123probands.ElevenpatientswithdiagnosedwithNoonansyndrome,andtheirclinicaldataandechocardiographicfindingswerecollected.ResultsThemedianageofdiagnosisofHCMwas2yearsand7months(5monthsto10years),andthemedianageofdiagnosisofNoonan...
