X连锁少汗性外胚层发育不良1家系EDA基因新突变

doi:10.35541/cjd.20230049

中华皮肤科杂志 ›› 2024, Vol. 57 ›› Issue (3): 262-264.doi: 10.35541/cjd.20230049

X连锁少汗性外胚层发育不良1家系EDA基因新突变

李梅赵吴玮罗志强汪凤娟周书文周海园史建强

广东医科大学附属医院皮肤性病科，湛江 524000

收稿日期:2023-01-31 修回日期:2023-07-31 发布日期:2024-03-04
通讯作者: 吴玮 E-mail:wuwei1350187@126.com
基金资助:
国家自然科学基金（81872532）

A family with X-linked hypohidrotic ectodermal dysplasia caused by a new mutation in the EDA gene

Li Meizhao, Wu Wei, Luo Zhiqiang, Wang Fengjuan, Zhou Shuwen, Zhou Haiyuan, Shi Jianqiang

Department of Dermatology and Venereology, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524000, Guangdong, China

Received:2023-01-31 Revised:2023-07-31 Published:2024-03-04
Contact: Wu Wei E-mail:wuwei1350187@126.com
Supported by:
National Natural Science Foundation of China（81872532）

摘要/Abstract

摘要： 先证者男，24岁，因自觉无汗、头发稀疏20余年，面部丘疹10年于2022年7月3日就诊。患者自幼双侧外耳廓不等大，反复出现中耳炎，皮肤不能分泌汗液，夏季户外活动时体温常可升至39 ℃，同时头发稀疏，眉毛缺如，青春期时腋毛及阴毛较晚出现且短而疏……

关键词: X连锁少汗性外胚层发育不良（XLHED）, EDA, 无义突变, 下一代测序 (NGS), Sanger 测序

Key words: X-linked hypohidrotic ectodermal dysplasia (XLHED), EDA, Nonsense mutation, Next Generation Sequencing (NGS), Sanger sequencing

李梅赵吴玮罗志强汪凤娟周书文周海园史建强. X连锁少汗性外胚层发育不良1家系EDA基因新突变[J]. 中华皮肤科杂志, 2024,57(3):262-264. doi:10.35541/cjd.20230049

Li Meizhao, Wu Wei, Luo Zhiqiang, Wang Fengjuan, Zhou Shuwen, Zhou Haiyuan, Shi Jianqiang. A family with X-linked hypohidrotic ectodermal dysplasia caused by a new mutation in the EDA gene[J]. Chinese Journal of Dermatology, 2024, 57(3): 262-264.doi:10.35541/cjd.20230049

参考文献 8

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X连锁少汗性外胚层发育不良1家系EDA基因新突变

A family with X-linked hypohidrotic ectodermal dysplasia caused by a new mutation in the EDA gene

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