RAF1基因新生突变致LEOPARD综合征1例并文献复习  

LEOPARD SYNDROME DUE TO DE NOVO MUTATION OF THE RAF1 GENE: A CASE REPORT AND LITERATURE REVIEW

作　　者：张彩宁 王本臻[1] 纪志娴[1] 李自普[1,3] ZHANG Caining;WANG Benzhen;JI Zhixian;LI Zipu(Department of Heart Center,Qingdao Women and Children’s Hospital of Qingdao University,Qingdao 266034,China)

机构地区：[1]青岛大学附属青岛妇女儿童医院心脏中心,山东青岛266034 [2]保定市第二中心医院新生儿科 [3]青岛妇女儿童医院重症医学中心

出　　处：《精准医学杂志》2019年第5期401-404,共4页Journal of Precision Medicine

基　　金：青岛市医疗卫生优秀人才培养项目资助(青卫科教字[2017]4号)

摘　　要：目的对1例LEOPARD综合征患儿进行相关基因的检测,以明确其致病基因。方法收集疑似LEOPARD综合征患儿及其父母临床资料和外周血,设计捕获芯片,通过高通量二代测序、生物信息分析及突变验证进行基因突变检测。结果发现RAF 1基因新生突变c.1082G>C,其父母RAF 1基因正常。患儿智力落后,认知异常,皮肤粗糙,特殊分布的雀斑样痣,面部特殊,听力正常,视力下降,心电图显著异常,心脏超声显示肥厚型心肌病。结论RAF 1基因新生突变c.1082G>C为导致该患儿临床表型的原因。Objective To investigate the pathogenic gene of LEOPARD syndrome(LS)by conducting a series of gene detection tests.Methods Clinical data and peripheral blood samples were collected from a child suspected of LS and the parents,capture chips were designed,and then high-throughput next-generation sequencing,bioinformatics analysis,and mutation validation were performed for the detection of gene mutation.Results A de novo mutation,c.1082G>C,was found in the RAF 1 gene of this child,while the parents had normal RAF 1 gene.The child had the symptoms of mental retardation,abnormal cognition,rough skin,lentigines with special distribution,unusual facies,normal hearing,impaired vision,abnormal electrocardiographic findings,and hypertrophic cardiomyopathy on echocardiography.Conclusion The de novo mutation of the RAF 1 gene(c.1082G>C)is the cause of the clinical phenotype of this child.

关 键 词：LEOPARD综合征 基因检测 突变 RAF 1基因 体征和症状 儿童 

分 类 号：R725.4[医药卫生—儿科] R541.1[医药卫生—临床医学]