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Novel mutation of EDA causes new asymmetrical X‐linked hypohidrotic ectodermal dysplasia phenotypes in a female
Author(s) -
Shen Lu,
liu Cenying,
Gao Ming,
Li Hongmei,
Zhang Yaowen,
Tian Qi,
Ni Hailun,
Peng Pengwei,
Zhao Rongjuan,
Hu Zhengmao,
Gao Yuan,
Xia Kun,
Bo Qifang,
Guo Hui
Publication year - 2019
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.14978
Subject(s) - hypohidrotic ectodermal dysplasia , proband , phenotype , ectodermal dysplasia , sanger sequencing , genetics , mutation , ectoderm , biology , gene , embryonic stem cell
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.