一个LEOPARD综合征小家系临床表型及遗传学特征分析  

Clinical and Genetic Characteristics of A LEOPARD Syndrome Family

作　　者：郭敏[1] 李书聆[1] 李锐洁[2] 江超武[1] 张力[1] 崔云华 王芳[1] 朱兰 阮标[1] Guo Min;Li Shuling;Li Ruijie;Jiang Chaowu;Zhang Li;Cui Yunhua;Wang Fang;Zhu Lan;Ruan Biao(Department of Otolaryngology,1 st Affiliated Hospital of Kunming Medical University, Kunming,650032,China)

机构地区：[1]昆明医科大学第一附属医院耳鼻咽喉科,昆明650032 [2]昆明医科大学第一附属医院心脏内科

出　　处：《听力学及言语疾病杂志》2018年第4期358-361,共4页Journal of Audiology and Speech Pathology

基　　金：国家自然科学基金(No.81660175);云南省卫生科技计划项目(No.2017NS074;No.2017NS073)资助

摘　　要：目的研究一个LEOPARD综合征小家系的临床表型及遗传学特征。方法对LEOPARD综合征先证者(女,1岁4个月,未通过听力筛查)及其家庭成员(祖父母、外祖父母及父母等8人)进行病史调查、临床检查、听力学检查,并使用二代测序技术进行耳聋基因检测。并选取听力正常对照组100例(健康体检人群)进行相应位点的检测,以排除遗传学上常见的无功能多态。结果先证者及其父母均为双耳重度感音神经性聋(听阈≥90dB nHL),家族中其他成员均无耳聋病史;先证者除了耳聋外,超声心动图提示其患有肥厚性心肌病;患儿父亲除耳聋外还伴有肥厚性心肌病和面部颈部多发痣;其母亲无全身其他异常表现。耳聋基因检测提示先证者及其父亲为PTPN11基因c.1391G>C位点错义突变,其母亲和正常对照组未见该位点的突变。结论先证者及其父亲为LEOPARD综合征患者,本研究首次检测出中国人群中PTPN11基因c.1391G>C位点突变。Objective To identify the clinical and genetic features of a family with Leopard syndrome.Methods Physical examination,audiological tests,echocardiography and genetic test were performed for the proband and her parents.Results The proband and her parents had binaural severe sensorineural hearing loss(hearing threshold≥90 dB nHL).The proband was suffered from hypertrophic cardiomyopathy in echocardiography except for hearing loss.Her father suffered from hypertrophic cardiomyopathy in echocardiography and multiple lentigines in face and neck.Genetic test showed missense mutation c.1391G>C in PTPN11 gene.Her mother did not have similar symptoms and gene mutations.Conclusion The clinical features and the genetic test identified the diagnose of the proband and her father as LEOPARD syndrome.It was the first report of Chinese LEOPARD syndrome family caused by c.1391G>C in PTPN11gene.

关 键 词：LEOPARD综合征 常染色体显性遗传 PTPN11基因 突变 

分 类 号：R764.44[医药卫生—耳鼻咽喉科]