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A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X‐linked hypohidrotic ectodermal dysplasia
Author(s) -
Zhang H.,
Quan C.,
Sun L.D.,
Lv H.L.,
Gao M.,
Zhou F.S.,
Xiao F.L.,
Fang Q.Y.,
Shen Y.J.,
Zhou L.,
Yang S.,
Zhang X.J.
Publication year - 2009
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2008.02844.x
Subject(s) - hypohidrotic ectodermal dysplasia , frameshift mutation , hypodontia , genetics , exon , mutation , hypotrichosis , ectodermal dysplasia , medicine , gene , biology , dentistry
Summary Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by hypotrichosis, hypodontia and hypohidrosis. HED can be autosomal dominant, autosomal recessive or X‐linked. However, X‐linked HED (XLHED; OMIM 305100) is the most common form. Mutations within the EDA1 gene, which encodes ectodysplasin‐A, are responsible for XLHED. In this study, we investigated the EDA1 gene in a Chinese Han family with XLHED, and found a novel 1‐bp deletion mutation (c.952delG) in exon 9 of the EDA1 gene, which results in a frameshift and premature termination codon. This result suggests that the c.952delG mutation of the EDA1 gene is likely to be the disease‐causing mutation for XLHED in this family. Our study adds new data to the worldwide knowledge of the molecular basis of XLHED.