[开放获取]    常染色体显性遗传皮肤松弛症1家系ELN基因变异分析

doi:10.35541/cjd.20250169

中华皮肤科杂志 ›› 2025, Vol. 58 ›› Issue (10): 986-987.doi: 10.35541/cjd.20250169

[开放获取] 常染色体显性遗传皮肤松弛症1家系ELN基因变异分析

顾洋鲁慧胡翠伍博钱华

苏州大学附属儿童医院皮肤科，苏州 215000

收稿日期:2025-03-31 修回日期:2025-07-30 发布日期:2025-09-30
通讯作者: 钱华 E-mail:qianhua721@163.com

Analysis of ELN gene mutations in a Chinese pedigree with autosomal dominant cutis laxa

Gu Yang, Lu Hui, Hu Cui, Wu Bo, Qian Hua

Department of Dermatology, Children′s Hospital of Soochow University, Suzhou 215000, Jiangsu, China

Received:2025-03-31 Revised:2025-07-30 Published:2025-09-30
Contact: Qian Hua E-mail:qianhua721@163.com

摘要/Abstract

摘要： 先证者男，3岁，因面部、躯干、四肢皮肤松弛2年于2023年9月就诊。患儿出生后面部皮肤肿胀，2月龄时面部皮肤出现松弛下垂，随年龄增长症状逐渐明显，面颈部、躯干、腋窝及腹股沟皮肤下垂明显，多褶皱，呈早老貌。每年秋冬季易患“支气管肺炎”，每次持续1 ~ 2个月……

顾洋鲁慧胡翠伍博钱华. [开放获取] 常染色体显性遗传皮肤松弛症1家系ELN基因变异分析[J]. 中华皮肤科杂志, 2025,58(10):986-987. doi:10.35541/cjd.20250169

Gu Yang, Lu Hui, Hu Cui, Wu Bo, Qian Hua. Analysis of ELN gene mutations in a Chinese pedigree with autosomal dominant cutis laxa[J]. Chinese Journal of Dermatology, 2025, 58(10): 986-987.doi:10.35541/cjd.20250169

参考文献 6

［1］	Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology［J］. Genet Med, 2015,17（5）:405⁃424. doi: 10.1038/gim.2015.30.
［2］	Beyens A, Boel A, Symoens S, et al. Cutis laxa: a comprehensive overview of clinical characteristics and pathophysiology［J］. Clin Genet, 2021,99（1）:53⁃66. doi: 10.1111/cge.13865.
［3］	Tassabehji M, Metcalfe K, Hurst J, et al. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa［J］. Hum Mol Genet, 1998,7（6）:1021⁃1028. doi: 10.1093/hmg/7.6.1021.
［4］	Hadj⁃Rabia S, Callewaert BL, Bourrat E, et al. Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity［J］. Orphanet J Rare Dis, 2013,8:36. doi: 10.1186/1750⁃1172⁃8⁃36.
［5］	Szabo Z, Crepeau MW, Mitchell AL, et al. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene［J］. J Med Genet, 2006,43（3）:255⁃258. doi: 10.1136/jmg.2005.034157.
［6］	Duque Lasio ML, Kozel BA. Elastin⁃driven genetic diseases［J］. Matrix Biol, 2018,71⁃72:144⁃160. doi: 10.1016/j.matbio.2018. 02.021.

[开放获取] 常染色体显性遗传皮肤松弛症1家系ELN基因变异分析

Analysis of ELN gene mutations in a Chinese pedigree with autosomal dominant cutis laxa

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献 6

相关文章 0

Metrics

本文评价

推荐阅读 10