经典型皮肤弹性过度综合征COL5A1基因突变分析  

Mutation analysis of COL5A1 gene in classic Ehlers-Danlos syndrome

作　　者：何淑女 张玲燕 刘吉鹏 俞点荷 李薇[1] 任韵清 HE Shu nyu;ZHANG Lingyan;LIU Jipeng;YU Dianhe;LI Wei;REN Yunqing(Department of Dermatology,Children s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China;Department of Hematology-Oncology,Children s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China)

机构地区：[1]浙江大学医学院附属儿童医院皮肤科,国家儿童健康与疾病临床医学研究中心,浙江杭州310052 [2]浙江大学医学院儿童医院血液肿瘤科,国家儿童健康临床研究中心,浙江杭州310052

出　　处：《中国麻风皮肤病杂志》2024年第8期538-544,共7页China Journal of Leprosy and Skin Diseases

基　　金：浙江省自然科学基金(编号:LTGD23H110001)。

摘　　要：目的:明确一例经典型皮肤弹性过度综合征(classic Ehlers-Danlos syndrome,cEDS)散发病例基因突变位点,并回顾总结国内报道cEDS病例的临床遗传特征。方法:对先证者进行全外显子组测序,对先证者及其父母进行Sanger测序验证突变位点,并检索1982年以来国内报道cEDS的所有文献。结果:先证者COL5A1基因第6号外显子发生杂合缺失突变:c.922delG(p.E308Rfs*3),其父母该位点无变异。文献检索到12例cEDS突变病例,11例携带COL5A1基因突变,1例携带COL5A2基因突变。结论:上述COL5A1基因突变为新的突变位点。Objective:To identify the gene mutations in a sporadic case of classic Ehlers-Danlos syndrome(cEDS)and summarize the genetic characteristics of cEDS reported in China.Methods:Whole exome sequencing was performed on the proband,and sanger sequencing was conducted to indetify the mutation in both the proband and his parents.Besides,all the literatures reported in China since 1982 were summarized.Results:The proband had a novel heterozygous deletion mutation of the COL5A1 gene on exon 6:c.922delG(p.E308Rfs*3),while no variation was found in his parents.A total of 12 cases of cEDS mutations were researched,of which,11 cases with COL5A1 gene mutation and 1 case with COL5A2 gene mutation.Conclusion:Our data add new variant to the repertoire of COL5A1 gene in cEDS.

关 键 词：经典型皮肤弹性过度综合征 COL5A1基因 突变 

分 类 号：R593.2[医药卫生—内科学] R751[医药卫生—临床医学]