一例Olmsted综合征患儿的临床及基因变异分析  

Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome

作　　者：卢建[1] 胡蓉 刘玲[1] 丁红珂[1] Lu Jian;Hu Rong;Liu Ling;Ding Hongke(Medical Genetic Center of Guangdong Women and Children Hospital,Key Laboratory of Maternal and Children’s Metabolic-Genetic Diseases of Guangdong Province,Guangzhou,Guangdong 511442,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东省妇幼代谢与遗传病重点实验室,广州511442

出　　处：《中华医学遗传学杂志》2021年第7期674-677,共4页Chinese Journal of Medical Genetics

基　　金：广东省医学科学技术研究基金 (A2020062)。

摘　　要：目的探讨1例罕见的TRPV3基因变异导致的常染色体显性Olmsted综合征患儿的临床特征及遗传学特点。方法分析1例掌跖过度角化患儿的临床资料,应用高通量测序及Sanger测序技术对患儿及其父母进行TRPV3基因变异检测。结果患儿临床主要表现为双手及双脚皮肤过度角化脱屑,指关节挛缩变形,双脚第五趾位置异常且残缩。皮肤组织活检病理显示显著角化过度,表皮增生,轻度表皮间细胞水肿。高通量测序结合Sanger测序验证结果显示患儿TRPV3基因存在新发错义变异c.2016G>T(p.Met672Ile)。结论患儿毁损性掌跖角化的致病原因可能为TRPV3基因的变异,该病例丰富了Olmsted综合征的基因变异与临床表型谱。Objective To analyze the clinical and genetic characteristics of a patient featuring autosomal dominant Olmsted syndrome.Methods Clinical features of the patient was reviewed.High-throughput sequencing was carried out to detect potential genetic variants.Results The proband,a 12-year-old girl,featured excessive keratinization on hands and feet,contracture of finger joints,and abnormal position and residual contraction of the fifth toes.Skin biopsy showed significant hyperkeratosis,epidermal hyperplasia,and mild interepidermal cell edema.A de novo heterozygous missense variant c.2016G>T(p.Met672Ile)was identified in the TRPV3 gene by high-throughout sequencing.The result was verified by Sanger sequencing.Conclusion The destructive palmoplantar keratosis in the child may be attributed to the c.2016G>T(p.Met672Ile)variant of the TRPV3 gene.Aboving finding has provided new evidence for the correlation of genetic variants with clinical phenotypes of Olmsted syndrome.

关 键 词：OLMSTED综合征 TRPV3基因 高通量测序 

分 类 号：R725.9[医药卫生—儿科]