中国麻风皮肤病杂志 ›› 2024, Vol. 40 ›› Issue (8): 538-544.doi: 10.12144/zgmfskin202408538

• 论著 • 上一篇    下一篇

经典型皮肤弹性过度综合征COL5A1基因突变分析

何淑女1,张玲燕2,刘吉鹏1,俞点荷1,李薇1,任韵清1   

  1. 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
  • 出版日期:2024-08-15 发布日期:2024-07-29

Mutation analysis of COL5A1 gene in classic Ehlers-Danlos syndrome

HE Shu'nyu1, ZHANG Lingyan2, LIU Jipeng1, YU Dianhe1, LI Wei1, REN Yunqing1   

  1. 1 Department of Dermatology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China; 2 Department of Hematology-Oncology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China
  • Online:2024-08-15 Published:2024-07-29

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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。

关键词: 经典型皮肤弹性过度综合征, COL5A1基因, 突变

Abstract: 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.

Key words: classic Ehlers-Danlos syndrome, COL5A1 gene, mutation