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Background  The phenotypic characters of X -linked Hypohidrotic Ectodermal Dysplasia (XLHED) are the dysplasia of epithelial- and mesenchymal-derived organs. Ectodysplasin ( EDA)  is the causative gene of XLHED.    Methods  The current study reported a large Chinese XLHED pedigree. The genomic DNA of adult and fetus was extracted from peripheral blood and shed chorion cell respectively. The nucleotide variation in  EDA  gene was screened through direct sequencing the coding sequence. The methylation state of  EDA  gene’s promoter was evaluated by pyrosequencing.    Results  This Chinese XLHED family had two male patients and three carriers. All of them were with a novel  EDA  frameshift mutation. The mutation, c.172-173insGG, which leads to an immediate premature stop codon in exon one caused severe structural changes of EDA. Prenatal diagnosis suggested that the fetus was a female carrier. The follow-up observation of this child indicated that she had mild hypodontia of deciduous teeth at age six. The methylation level of  EDA  gene’s promoter was not related to carriers’ phenotype changes in this family.    Discussion  We reported a new frameshift mutation of  EDA  gene in a Chinese family. Prenatal diagnosis can help to predict the disease status of the fetus.

Mutation detection and prenatal diagnosis of XLHED pedigree