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

郭敏;李书聆;李锐洁;江超武;张力;崔云华;王芳;朱兰;阮标;

1:昆明医科大学第一附属医院耳鼻咽喉科

2:昆明医科大学第一附属医院心脏内科

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。
关键词
LEOPARD综合征;常染色体显性遗传;PTPN11基因;突变
基金项目(Foundation):
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
作者
郭敏;李书聆;李锐洁;江超武;张力;崔云华;王芳;朱兰;阮标;
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