中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (5): 332-335.doi: 10.12144/zgmfskin202605332

• 论著 • 上一篇    下一篇

常染色体显性遗传皮肤松弛症ELN基因突变检测

曹功皓1,2,杨锦向1,2,潘超兰1,2,孙沛昳1,2,王晓晓1,2,姚智荣1,2,梁键莹1,2   

  1. 1上海交通大学附属新华医院皮肤科，上海，200092；2上海交通大学医学院皮肤病研究所，上海，200092
  • 出版日期:2026-05-15 发布日期:2026-05-11

Detection of ELN gene mutation in autosomal dominant cutis laxa

CAO Gonghao1,2, YANG Jinxiang1,2, PAN Chaolan1,2, SUN Peiyi1,2, WANG Xiaoxiao1,2, YAO Zhirong1,2, LIANG Jianying1,2   

  1. 1 Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092,China；2 Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
  • Online:2026-05-15 Published:2026-05-11

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摘要： 目的：报道1例ELN基因突变相关常染色体显性遗传皮肤松弛症(autosomal dominant cutis laxa, ADCL)患者并检测患者及其家系基因突变情况。方法：采集患者临床资料，包括病史采集与体格检查，收集患儿及父母外周血，提取基因组DNA。使用高通量二代基因测序技术对遗传性皮肤病基因进行筛查，并通过Sanger测序验证候选突变位点。结果：患儿表现为有全身皮肤松弛伴面颊皮肤下垂症状，父母无类似皮损表现，在患者ELN基因中检测到c.1985delG（p.G662fs*25）杂合突变，其父母均未检测到该突变。在千人基因组数据库中均未检测到健康人群携带该突变。通过蛋白质位点分析发现基因移码突变导致蛋白质发生截短突变。结论：本例患儿携带的ELN c.1985delG（p.G662fs*25）杂合突变，是该患者的致病基因。

关键词: 皮肤松弛症, ELN基因, 基因突变

Abstract: Objective: To report a case of autosomal dominant cutis laxa (ADCL) associated with ELN gene mutation and to investigate the gene mutations in the patient and her family. Methods: Clinical data of the patient were collected, including medical history and physical examination. Peripheral blood samples were collected from the child and her parents, and genomic DNA was extracted. High-throughput second-generation gene sequencing technology was used to screen for genetic skin disease genes, and candidate mutation sites were verified by Sanger sequencing. Results: The patient presented with generalized skin laxity accompanied by sagging skin on the cheeks. Her parents did not exhibit similar skin lesions. A heterozygous mutation, c.1985delG (p.G662fs*25), was detected in the patient's ELN gene, while neither parent showed this mutation. No healthy individuals carrying this mutation were found in the Thousand Genomes Database. Protein site analysis revealed that the gene frameshift mutation resulted in a truncated protein. Conclusion: The heterozygous ELN c.1985delG (p.G662fs*25) mutation carried by the child is the pathogenic gene in this case.

Key words: cutis laxa, ELN gene, gene mutation