LEOPARD综合征患者PTPN11基因突变分析  

Mutation analysis of PTPN11 gene responsible for LEOPARD syndrome

作　　者：高莹[1] 高逸冰 康莉[2] GAO Ying;GAO Yibing;KANG Li(Department of Emergency,Second Affiliated Hospial,Nanjing Medical University,Narjing 210011,CHINA)

机构地区：[1]南京医科大学第二附属医院急诊科,江苏210011 [2]南京医科大学附属明基医院皮肤科

出　　处：《江苏医药》2023年第3期303-305,F0003,共4页Jiangsu Medical Journal

摘　　要：目的分析1例LEOPARD综合征(LS)患者非受体型蛋白酪氨酸磷酸酶11(PTPN11)基因突变情况。方法提取LS家系成员(包括1例男性LS患者及其双亲)和100例正常人外周血白细胞基因组DNA,PCR扩增PTPN11基因的全部外显子并行DNA测序。结果检测到LS患者PTPN11基因新突变,其第7号外显子c.836A>G,导致第279位的酪氨酸残基被半胱氨酸残基替代。患者父母及与家系无血缘关系的100例正常人均未发现此突变。结论PTPN11基因第7号外显子c.836A>G突变是导致该例患者发生LS的特异突变。Objective To analyze the mutation of PTPN11 gene in a sporadic Chinese patient with LEOPARD syndrome(LS).Methods Genomic DNA was extracted from whole blood by standard methods from one male LS patient,his parents and 100 unrelated normal individuals selected from a Chinese population.The whole coding region of PTPN11 gene was amplified by PCR and products were analyzed by direct sequencing.Results Molecular analysis of the PTPN11 gene in this case of LS revealed a novel heterozygous mutation c.836A>G in exon 7,which altered a tyrosine residue with cysteine residue at position 279 of the protein sequence.The novel mutation was not observed in the patient's parents and 100 normal individuals.Conclusion The c.836A>G mutation in exon 7 of PTPN11 gene is a specific mutation that causes LS in this patient.

关 键 词：LEOPARD综合征 遗传 非受体型蛋白酪氨酸磷酸酶11基因 基因突变 

分 类 号：R751[医药卫生—皮肤病学与性病学]