LEOPARD综合征一例PTPN11基因突变研究  

Mutation analysis of the PTPN11 gene in a family with LEOPARD syndrome

作　　者：臧东杰[1] 许星海[2] 周城[3] 张建中[3] 侯艳霞[1] 韩庄[1] 蒋靖[1] 

机构地区：[1]天津市南开医院皮肤科,300100 [2]首都医科大学附属北京儿童医院 [3]北京大学人民医院

出　　处：《中华皮肤科杂志》2015年第6期429-430,共2页Chinese Journal of Dermatology

摘　　要：目的 对1例LEOPARD综合征（LS）家系进行PTPN11基因突变检测,以明确其致病基因.方法 收集该LS家系的临床资料,提取外周血DNA、通过PCR扩增PTPN11基因编码区的全部外显子及其侧翼序列并测序,以表型正常家系成员及50例健康人为健康对照.结果 发现该家系内患者存在PTPN11基因的错义突变c.836A＞G,在家系中正常人及对照者未发现上述突变.结论 错义突变PTPN11的c.836A＞G为导致该家系临床表型的原因.Objective To detect mutations in the PTPN11 gene in a family with LEOPARD syndrome （LS）.Methods Clinical data were collected from a 7-year-old boy patient with LS.Peripheral blood was obtained from the patient,both of his parents,and 50 healthy controls.All the exons and their flanking sequences of the PTPN11 gene were amplified by PCR followed by direct DNA sequencing.Results A heterozygous missense mutation c.836A 〉 G,which resulted in a substitution of TAT by TGT at codon 279,was found in exon 7 of the PTPN11 gene in the patient.No mutation was detected in the unaffected parents or healthy controls.Conclusion The missense mutation c.836A 〉 G may be the cause of the phenotype of LS in this family.

关 键 词：LEOPARD综合征 基因 突变 基因 PTPNll 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]