Olmsted综合征一例基因突变分析  

Gene mutation detection for a patient with Olmsted syndrome

作　　者：邓维 苏伟[1] 刘晓雁[1] DENG Wei;SU Wei;LIU Xiao-yan(Department of Dermatology,Children's Hospital affiliated to Capital Institute of Pediatrics,Beijing 100020,China)

机构地区：[1]首都儿科研究所附属儿童医院皮肤科,北京100020

出　　处：《实用皮肤病学杂志》2021年第5期315-318,共4页Journal of Practical Dermatology

摘　　要：目的研究1例Olmsted综合征患儿的基因突变情况。方法应用高通量测序方法对患儿外周血DNA行全外显子测序,确定基因突变位点,针对突变位点设计扩增引物,采用聚合酶链反应和Sanger测序法对患儿及其父母外周血DNA行一代测序验证。结果患儿TRPV3基因位点第13外显子存在c.1703G>T杂合突变(编码区第1703号核苷酸由鸟嘌呤变异为胸腺嘧啶),导致氨基酸改变p.G568Va1(第568号氨基酸由甘氨酸变异为缬氨酸),为错义突变。患儿父母及1 000名无关正常对照未检测出该位点突变。结论 TRPV3基因的c.1703G>T,p.G568V突变是导致本例患儿发病的主要原因,目前该位点在中国人群尚无报道。Objective To detect the genetic mutation of a Chinese child with Olmsted syndrome. Methods High-throughput sequencing method was performed for the peripheral blood DNA of the child to determine the gene mutation sites, then the amplification primers were designed for the mutation site, and the peripheral blood DNA of the child and his parents was sequenced by polymerase chain reaction and Sanger sequencing so as to verify the genetic mutation. Results There was a heterozygous missense mutation of TRPV3, c.1703 G>T, p.Gly568 Val. This mutation was not detected in the child’s parents and 1 000 unrelated normal controls. Conclusion The c.1703 G>T, p.Gly568 Val mutation of TRPV3 gene is the main cause of Olmsted syndrome in this child, and this mutation has not been previously identified in Chinese population.

关 键 词：OLMSTED综合征 儿童 掌跖角化病 TRPV3基因 基因突变 

分 类 号：R394.1[医药卫生—医学遗传学]