A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia

被引：4
|
作者：
Li, Ming [1 ,2 ]
Xu, Tian-Yi [3 ]
Yang, Li-Jia [1 ,2 ]
Zhu, Xiao-Hong [1 ,2 ]
机构：
[1] Wuxi 2 Peoples Hosp, Dept Dermatol, Jiangsu 214002, Peoples R China
[2] Nanjing Med Univ, Dept Dermatol, Wuxi Affiliated Hosp 2, Jiangsu 214002, Peoples R China
[3] Shanghai Jiao Tong Univ, Int Peace Matern & Child Hosp, Sch Med, Shanghai 200030, Peoples R China
来源：
ARCHIVES OF DERMATOLOGICAL RESEARCH | 2008年 / 300卷 / 07期
关键词：
X-linked hypohidrotic ectodermal dysplasia (XLHED); mutation analysis; ED1; gene;
D O I：
10.1007/s00403-008-0855-0
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of the ectodermal dysplasias characterized by an abnormal development of eccrine sweat glands, hair and teeth. Pathogenic mutations in the ED1 gene have been identified. In this family, a 22-bp deletion mutation of exon 8 in the ED1 gene was found in the affected members but not in the healthy individuals and 100 unrelated controls. We add new variant to the knowledge of ED1 mutations in XLHED.
引用
收藏
页码：389 / 391
页数：3
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