Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female

被引:6
作者
Shen, Lu [1 ,2 ]
LIu, Cenying [1 ,2 ]
Gao, Ming [4 ]
Li, Hongmei [3 ]
Zhang, Yaowen [1 ,2 ]
Tian, Qi [1 ,2 ]
Ni, Hailun [1 ,2 ]
Peng, Pengwei [1 ,2 ]
Zhao, Rongjuan [1 ,2 ]
Hu, Zhengmao [1 ,2 ]
Gao, Yuan [4 ]
Xia, Kun [1 ,2 ]
Bo, Qifang [3 ]
Guo, Hui [1 ,2 ]
机构
[1] Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China
[2] Cent South Univ, Sch Life Sci, Hunan Key Lab Med Genet, Changsha, Hunan, Peoples R China
[3] Dongying Peoples Hosp, Dept Gynecol & Obstet, 317 East City South 1st Rd, Dongying 257091, Shandong, Peoples R China
[4] Shandong Univ, Ctr Reprod Med, Jinan, Shandong, Peoples R China
基金
中国国家自然科学基金;
关键词
hypohidrotic ectodermal dysplasia; EDA; novel mutation; asymmetry; new phenotype; COMPLICATIONS;
D O I
10.1111/1346-8138.14978
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder that affects tissues derived from the ectoderm including hair, teeth and sweat glands. EDA is the major causative gene of HED. This study recruited a Chinese family with HED, including a male proband and his mother with a fetus. The proband had typical clinical features of HED and the mother had identical but milder features. Interestingly, some phenotypes of the mother appeared asymmetrically between the right and left side of the body that were not reported in previous studies. Targeted sequencing was performed in the proband and a novel frame-shift mutation (NM_001399.4: c.381_382delinsG, p.Q128Rfs*9) in EDA was found. Sanger sequencing validated the mutation and identified the same mutation in the mother. Our study expands the clinical and genetic spectrum of EDA-related disorders and reports new asymmetrical phenotypes in a female.
引用
收藏
页码:731 / 733
页数:3
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